Canonical Allele Identifier: CA412654363
Community Standard Title: NM_004006.3(DMD):c.8692C>T (p.Gln2898Ter)
Gene: DMD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31478351G>A , CM000685.2:g.31478351G>A GRCh38
NC_000023.10:g.31496468G>A , CM000685.1:g.31496468G>A GRCh37
NC_000023.9:g.31406389G>A NCBI36
NG_012232.1:g.1866259C>T , LRG_199:g.1866259C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004006.3:c.8692C>T MANE Select NP_003997.2:p.Gln2898Ter
ENST00000357033.9:c.8692C>T MANE Select ENSP00000354923.3:p.Gln2898Ter
NM_000109.3:c.8668C>T NP_000100.2:p.Gln2890Ter
NM_000109.4:c.8668C>T NP_000100.3:p.Gln2890Ter
NM_004006.2:c.8692C>T , LRG_199t1:c.8692C>T NP_003997.1:p.Gln2898Ter
NM_004009.3:c.8680C>T NP_004000.1:p.Gln2894Ter
NM_004010.3:c.8323C>T NP_004001.1:p.Gln2775Ter
NM_004011.3:c.4669C>T NP_004002.2:p.Gln1557Ter
NM_004011.4:c.4669C>T NP_004002.3:p.Gln1557Ter
NM_004012.3:c.4660C>T NP_004003.1:p.Gln1554Ter
NM_004012.4:c.4660C>T NP_004003.2:p.Gln1554Ter
NM_004013.2:c.1312C>T NP_004004.1:p.Gln438Ter
NM_004013.3:c.1312C>T NP_004004.2:p.Gln438Ter
NM_004014.2:c.505C>T NP_004005.1:p.Gln169Ter
NM_004014.3:c.505C>T NP_004005.2:p.Gln169Ter
NM_004020.3:c.1312C>T NP_004011.2:p.Gln438Ter
NM_004020.4:c.1312C>T NP_004011.3:p.Gln438Ter
NM_004021.2:c.1312C>T NP_004012.1:p.Gln438Ter
NM_004021.3:c.1312C>T NP_004012.2:p.Gln438Ter
NM_004022.2:c.1312C>T NP_004013.1:p.Gln438Ter
NM_004022.3:c.1312C>T NP_004013.2:p.Gln438Ter
NM_004023.2:c.1312C>T NP_004014.1:p.Gln438Ter
NM_004023.3:c.1312C>T NP_004014.2:p.Gln438Ter
ENST00000343523.6:c.505C>T ENSP00000340057.3:p.Gln169Ter
ENST00000343523.7:c.547C>T ENSP00000340057.4:p.Gln183Ter
ENST00000357033.8:c.8692C>T ENSP00000354923.3:p.Gln2898Ter
ENST00000358062.6:c.1780C>T ENSP00000350765.2:p.Gln594Ter
ENST00000358062.7:c.3538C>T ENSP00000350765.3:p.Gln1180Ter
ENST00000359836.5:c.1312C>T ENSP00000352894.1:p.Gln438Ter
ENST00000378677.6:c.8680C>T ENSP00000367948.2:p.Gln2894Ter
ENST00000378707.7:c.1312C>T ENSP00000367979.3:p.Gln438Ter
ENST00000445312.1:n.749C>T
ENST00000474231.5:c.1312C>T ENSP00000417123.1:p.Gln438Ter
ENST00000541735.5:c.1312C>T ENSP00000444119.1:p.Gln438Ter
ENST00000619831.4:c.8677C>T ENSP00000479270.1:p.Gln2893Ter
ENST00000619831.5:c.4660C>T ENSP00000479270.2:p.Gln1554Ter
ENST00000620040.4:c.8689C>T ENSP00000478150.1:p.Gln2897Ter
ENST00000620040.5:c.1312C>T ENSP00000478150.2:p.Gln438Ter
ENST00000680961.1:c.1312C>T ENSP00000506386.1:p.Gln438Ter
ENST00000681646.1:n.2353C>T
ENST00000682238.1:c.1312C>T ENSP00000508124.1:p.Gln438Ter
ENST00000683450.1:n.2157C>T
ENST00000683957.1:n.2184C>T
ENST00000684130.1:c.1312C>T ENSP00000508037.1:p.Gln438Ter
XM_006724468.2:c.8692C>T XP_006724531.1:p.Gln2898Ter
XM_006724469.2:c.8668C>T XP_006724532.1:p.Gln2890Ter
XM_006724469.3:c.8668C>T XP_006724532.1:p.Gln2890Ter
XM_006724470.2:c.8692C>T XP_006724533.1:p.Gln2898Ter
XM_006724470.3:c.8692C>T XP_006724533.1:p.Gln2898Ter
XM_006724471.2:c.8692C>T XP_006724534.1:p.Gln2898Ter
XM_006724472.2:c.8563C>T XP_006724535.1:p.Gln2855Ter
XM_006724473.2:c.8554C>T XP_006724536.1:p.Gln2852Ter
XM_006724474.2:c.8692C>T XP_006724537.1:p.Gln2898Ter
XM_006724474.3:c.8692C>T XP_006724537.1:p.Gln2898Ter
XM_006724475.2:c.8692C>T XP_006724538.1:p.Gln2898Ter
XM_011545467.1:c.8569C>T XP_011543769.1:p.Gln2857Ter
XM_011545468.1:c.8692C>T XP_011543770.1:p.Gln2898Ter
XM_011545468.2:c.8692C>T XP_011543770.1:p.Gln2898Ter
XM_017029328.1:c.8692C>T XP_016884817.1:p.Gln2898Ter
XM_017029331.1:c.2866C>T XP_016884820.1:p.Gln956Ter