Canonical Allele Identifier: CA2580573380

Gene: DMD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.[31178766del;31180369C>A] , CM000685.2:g.[31178766del;31180369C>A]	GRCh38
NC_000023.10:g.[31196883del;31198486C>A] , CM000685.1:g.[31196883del;31198486C>A]	GRCh37
NC_000023.9:g.[31106804del;31108407C>A]	NCBI36
NG_012232.1:g.[2164241G>T;2165844del] , LRG_199:g.[2164241G>T;2165844del]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358062.7:c.[4932+1G>T;4972del]	ENSP00000350765.3:p.Leu1658Ter
ENST00000475732.3:n.[2433+1G>T;2473del]
ENST00000680162.2:c.[882+1G>T;922del]	ENSP00000506634.2:p.Leu308Ter
ENST00000680768.2:c.[882+1G>T;922del]	ENSP00000506359.2:p.Leu308Ter
ENST00000681989.1:n.[884+1G>T;924del]
ENST00000682238.1:c.[2706+1G>T;2746del]	ENSP00000508124.1:p.Leu916Ter
ENST00000682322.1:c.[882+1G>T;922del]	ENSP00000507690.1:p.Leu308Ter
ENST00000682600.1:c.[882+1G>T;922del]	ENSP00000507640.1:p.Leu308Ter
ENST00000682769.1:n.[717+1G>T;757del]
ENST00000683509.1:n.[1603+1G>T;1643del]
ENST00000683675.1:n.[1185+1G>T;1225del]
ENST00000683709.1:n.[1604+1G>T;1644del]
ENST00000683957.1:n.[3578+1G>T;3618del]
ENST00000684130.1:c.[2706+1G>T;2746del]	ENSP00000508037.1:p.Leu916Ter
ENST00000343523.7:c.[1941+1G>T;1981del]	ENSP00000340057.4:p.Leu661Ter
ENST00000357033.9:c.[10086+1G>T;10126del] MANE Select	ENSP00000354923.3:p.Leu3376Ter
ENST00000475732.2:n.[452+1G>T;492del]
ENST00000619831.5:c.[6054+1G>T;6094del]	ENSP00000479270.2:p.Leu2032Ter
ENST00000620040.5:c.[2706+1G>T;2746del]	ENSP00000478150.2:p.Leu916Ter
ENST00000679641.1:c.[*88+1G>T;*128del]	ENSP00000506135.1:n.[*88+1G>T;*128del]
ENST00000679706.1:c.[43+1G>T;83del]
ENST00000680162.1:c.[759+1G>T;799del]	ENSP00000506634.1:p.Leu267Ter
ENST00000680355.1:c.[882+1G>T;922del]	ENSP00000506257.1:p.Leu308Ter
ENST00000680557.1:c.[603+23592G>T;603+25195del]	ENSP00000505164.1:n.[603+23592G>T;603+25195del]
ENST00000680768.1:c.[825+1G>T;865del]	ENSP00000506359.1:p.Leu289Ter
ENST00000680961.1:c.[*88+1G>T;*128del]	ENSP00000506386.1:n.[*88+1G>T;*128del]
ENST00000681153.1:c.[882+1G>T;922del]	ENSP00000505124.1:p.Leu308Ter
ENST00000681654.1:n.[1016+1G>T;1056del]
ENST00000343523.6:c.[1899+1G>T;1939del]	ENSP00000340057.3:p.Leu647Ter
ENST00000357033.8:c.[10086+1G>T;10126del]	ENSP00000354923.3:p.Leu3376Ter
ENST00000358062.6:c.[3174+1G>T;3214del]	ENSP00000350765.2:p.Leu1072Ter
ENST00000359836.5:c.[2706+1G>T;2746del]	ENSP00000352894.1:p.Leu916Ter
ENST00000361471.8:c.[882+1G>T;922del]	ENSP00000354464.4:p.Leu308Ter
ENST00000378677.6:c.[10074+1G>T;10114del]	ENSP00000367948.2:p.Leu3372Ter
ENST00000378680.6:c.[882+1G>T;922del]	ENSP00000367951.2:p.Leu308Ter
ENST00000378702.8:c.[882+1G>T;922del]	ENSP00000367974.4:p.Leu308Ter
ENST00000378705.3:c.[456+1G>T;496del]	ENSP00000367977.3:p.Leu166Ter
ENST00000378707.7:c.[2706+1G>T;2746del]	ENSP00000367979.3:p.Leu916Ter
ENST00000378723.7:c.[882+1G>T;922del]	ENSP00000367997.3:p.Leu308Ter
ENST00000474231.5:c.[2706+1G>T;2746del]	ENSP00000417123.1:p.Leu916Ter
ENST00000475732.1:n.[302+1G>T;342del]
ENST00000541735.5:c.[2706+1G>T;2746del]	ENSP00000444119.1:p.Leu916Ter
ENST00000619831.4:c.[10071+1G>T;10111del]	ENSP00000479270.1:p.Leu3371Ter
ENST00000620040.4:c.[10083+1G>T;10123del]	ENSP00000478150.1:p.Leu3375Ter
NM_000109.3:c.[10062+1G>T;10102del]	NP_000100.2:p.Leu3368Ter
NM_004006.2:c.[10086+1G>T;10126del] , LRG_199t1:c.[10086+1G>T;10126del]	NP_003997.1:p.Leu3376Ter
NM_004009.3:c.[10074+1G>T;10114del]	NP_004000.1:p.Leu3372Ter
NM_004010.3:c.[9717+1G>T;9757del]	NP_004001.1:p.Leu3253Ter
NM_004011.3:c.[6063+1G>T;6103del]	NP_004002.2:p.Leu2035Ter
NM_004012.3:c.[6054+1G>T;6094del]	NP_004003.1:p.Leu2032Ter
NM_004013.2:c.[2706+1G>T;2746del]	NP_004004.1:p.Leu916Ter
NM_004014.2:c.[1899+1G>T;1939del]	NP_004005.1:p.Leu647Ter
NM_004015.2:c.[882+1G>T;922del]	NP_004006.1:p.Leu308Ter
NM_004016.2:c.[882+1G>T;922del]	NP_004007.1:p.Leu308Ter
NM_004017.2:c.[882+1G>T;922del]	NP_004008.1:p.Leu308Ter
NM_004018.2:c.[882+1G>T;922del]	NP_004009.1:p.Leu308Ter
NM_004019.2:c.[882+1G>T;922del]	NP_004010.1:p.Leu308Ter
NM_004020.3:c.[2706+1G>T;2746del]	NP_004011.2:p.Leu916Ter
NM_004021.2:c.[2706+1G>T;2746del]	NP_004012.1:p.Leu916Ter
NM_004022.2:c.[2706+1G>T;2746del]	NP_004013.1:p.Leu916Ter
NM_004023.2:c.[2706+1G>T;2746del]	NP_004014.1:p.Leu916Ter
XM_006724468.2:c.[10086+1G>T;10126del]	XP_006724531.1:p.Leu3376Ter
XM_006724469.2:c.[10062+1G>T;10102del]	XP_006724532.1:p.Leu3368Ter
XM_006724470.2:c.[10086+1G>T;10126del]	XP_006724533.1:p.Leu3376Ter
XM_006724471.2:c.[10086+1G>T;10126del]	XP_006724534.1:p.Leu3376Ter
XM_006724472.2:c.[9957+1G>T;9997del]	XP_006724535.1:p.Leu3333Ter
XM_006724473.2:c.[9948+1G>T;9988del]	XP_006724536.1:p.Leu3330Ter
XM_006724474.2:c.[10086+1G>T;10126del]	XP_006724537.1:p.Leu3376Ter
XM_006724475.2:c.[10086+1G>T;10126del]	XP_006724538.1:p.Leu3376Ter
XM_011545467.1:c.[9963+1G>T;10003del]	XP_011543769.1:p.Leu3335Ter
XM_006724469.3:c.[10062+1G>T;10102del]	XP_006724532.1:p.Leu3368Ter
XM_006724470.3:c.[10086+1G>T;10126del]	XP_006724533.1:p.Leu3376Ter
XM_006724474.3:c.[10086+1G>T;10126del]	XP_006724537.1:p.Leu3376Ter
XM_017029328.1:c.[10086+1G>T;10126del]	XP_016884817.1:p.Leu3376Ter
XM_017029331.1:c.[4260+1G>T;4300del]	XP_016884820.1:p.Leu1434Ter
NM_000109.4:c.[10062+1G>T;10102del]	NP_000100.3:p.Leu3368Ter
NM_004006.3:c.[10086+1G>T;10126del] MANE Select	NP_003997.2:p.Leu3376Ter
NM_004011.4:c.[6063+1G>T;6103del]	NP_004002.3:p.Leu2035Ter
NM_004012.4:c.[6054+1G>T;6094del]	NP_004003.2:p.Leu2032Ter
NM_004015.3:c.[882+1G>T;922del]	NP_004006.1:p.Leu308Ter
NM_004016.3:c.[882+1G>T;922del]	NP_004007.1:p.Leu308Ter
NM_004017.3:c.[882+1G>T;922del]	NP_004008.1:p.Leu308Ter
NM_004018.3:c.[882+1G>T;922del]	NP_004009.1:p.Leu308Ter
NM_004019.3:c.[882+1G>T;922del]	NP_004010.1:p.Leu308Ter
NM_004021.3:c.[2706+1G>T;2746del]	NP_004012.2:p.Leu916Ter
NM_004023.3:c.[2706+1G>T;2746del]	NP_004014.2:p.Leu916Ter
NM_004013.3:c.[2706+1G>T;2746del]	NP_004004.2:p.Leu916Ter
NM_004014.3:c.[1899+1G>T;1939del]	NP_004005.2:p.Leu647Ter
NM_004020.4:c.[2706+1G>T;2746del]	NP_004011.3:p.Leu916Ter
NM_004022.3:c.[2706+1G>T;2746del]	NP_004013.2:p.Leu916Ter