Canonical Allele Identifier: CA16616492
Gene: DMD HGNC NCBI

Linked Data

ClinVar Variation Id: 409912
ClinVar RCV Id: RCV000461452
dbSNP Id: rs1064792967
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.31820041_31820043delinsAAAC , CM000685.2:g.31820041_31820043delinsAAAC GRCh38
NC_000023.10:g.31838158_31838160delinsAAAC , CM000685.1:g.31838158_31838160delinsAAAC GRCh37
NC_000023.9:g.31748079_31748081delinsAAAC NCBI36
NG_012232.1:g.1524567_1524569delinsGTTT , LRG_199:g.1524567_1524569delinsGTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000358062.7:c.2087_2089delinsGTTT ENSP00000350765.3:p.Asn696SerfsTer13
ENST00000682238.1:c.-140_-138delinsGTTT ENSP00000508124.1:n.-140_-138delinsGTTT
ENST00000683117.1:n.902_904delinsGTTT
ENST00000683450.1:n.824_826delinsGTTT
ENST00000683851.1:n.902_904delinsGTTT
ENST00000683957.1:n.733_735delinsGTTT
ENST00000684130.1:c.-140_-138delinsGTTT ENSP00000508037.1:n.-140_-138delinsGTTT
ENST00000357033.9:c.7241_7243delinsGTTT MANE Select ENSP00000354923.3:p.Asn2414SerfsTer13
ENST00000619831.5:c.3209_3211delinsGTTT ENSP00000479270.2:p.Asn1070SerfsTer13
ENST00000620040.5:c.-140_-138delinsGTTT ENSP00000478150.2:n.-140_-138delinsGTTT
ENST00000680961.1:c.-140_-138delinsGTTT ENSP00000506386.1:n.-140_-138delinsGTTT
ENST00000681646.1:n.902_904delinsGTTT
ENST00000681839.1:c.230_232delinsGTTT ENSP00000505228.1:p.Asn77SerfsTer13
ENST00000357033.8:c.7241_7243delinsGTTT ENSP00000354923.3:p.Asn2414SerfsTer13
ENST00000358062.6:c.329_331delinsGTTT ENSP00000350765.2:p.Asn110SerfsTer13
ENST00000359836.5:c.-140_-138delinsGTTT ENSP00000352894.1:n.-140_-138delinsGTTT
ENST00000378677.6:c.7229_7231delinsGTTT ENSP00000367948.2:p.Asn2410SerfsTer13
ENST00000378707.7:c.-140_-138delinsGTTT ENSP00000367979.3:n.-140_-138delinsGTTT
ENST00000471779.1:c.66+16675_66+16677delinsGTTT ENSP00000417075.1:n.66+16675_66+16677deli...
ENST00000474231.5:c.-140_-138delinsGTTT ENSP00000417123.1:n.-140_-138delinsGTTT
ENST00000541735.5:c.-140_-138delinsGTTT ENSP00000444119.1:n.-140_-138delinsGTTT
ENST00000619831.4:c.7226_7228delinsGTTT ENSP00000479270.1:p.Asn2409SerfsTer13
ENST00000620040.4:c.7238_7240delinsGTTT ENSP00000478150.1:p.Asn2413SerfsTer13
NM_000109.3:c.7217_7219delinsGTTT NP_000100.2:p.Asn2406SerfsTer13
NM_004006.2:c.7241_7243delinsGTTT , LRG_199t1:c.7241_7243delinsGTTT NP_003997.1:p.Asn2414SerfsTer13
NM_004009.3:c.7229_7231delinsGTTT NP_004000.1:p.Asn2410SerfsTer13
NM_004010.3:c.6872_6874delinsGTTT NP_004001.1:p.Asn2291SerfsTer13
NM_004011.3:c.3218_3220delinsGTTT NP_004002.2:p.Asn1073SerfsTer13
NM_004012.3:c.3209_3211delinsGTTT NP_004003.1:p.Asn1070SerfsTer13
NM_004013.2:c.-140_-138delinsGTTT NP_004004.1:n.-140_-138delinsGTTT
NM_004020.3:c.-140_-138delinsGTTT NP_004011.2:n.-140_-138delinsGTTT
NM_004021.2:c.-140_-138delinsGTTT NP_004012.1:n.-140_-138delinsGTTT
NM_004022.2:c.-140_-138delinsGTTT NP_004013.1:n.-140_-138delinsGTTT
NM_004023.2:c.-140_-138delinsGTTT NP_004014.1:n.-140_-138delinsGTTT
XM_006724468.2:c.7241_7243delinsGTTT XP_006724531.1:p.Asn2414SerfsTer13
XM_006724469.2:c.7217_7219delinsGTTT XP_006724532.1:p.Asn2406SerfsTer13
XM_006724470.2:c.7241_7243delinsGTTT XP_006724533.1:p.Asn2414SerfsTer13
XM_006724471.2:c.7241_7243delinsGTTT XP_006724534.1:p.Asn2414SerfsTer13
XM_006724472.2:c.7112_7114delinsGTTT XP_006724535.1:p.Asn2371SerfsTer13
XM_006724473.2:c.7103_7105delinsGTTT XP_006724536.1:p.Asn2368SerfsTer13
XM_006724474.2:c.7241_7243delinsGTTT XP_006724537.1:p.Asn2414SerfsTer13
XM_006724475.2:c.7241_7243delinsGTTT XP_006724538.1:p.Asn2414SerfsTer13
XM_011545467.1:c.7118_7120delinsGTTT XP_011543769.1:p.Asn2373SerfsTer13
XM_011545468.1:c.7241_7243delinsGTTT XP_011543770.1:p.Asn2414SerfsTer13
XM_006724469.3:c.7217_7219delinsGTTT XP_006724532.1:p.Asn2406SerfsTer13
XM_006724470.3:c.7241_7243delinsGTTT XP_006724533.1:p.Asn2414SerfsTer13
XM_006724474.3:c.7241_7243delinsGTTT XP_006724537.1:p.Asn2414SerfsTer13
XM_011545468.2:c.7241_7243delinsGTTT XP_011543770.1:p.Asn2414SerfsTer13
XM_017029328.1:c.7241_7243delinsGTTT XP_016884817.1:p.Asn2414SerfsTer13
XM_017029331.1:c.1415_1417delinsGTTT XP_016884820.1:p.Asn472SerfsTer13
NM_000109.4:c.7217_7219delinsGTTT NP_000100.3:p.Asn2406SerfsTer13
NM_004006.3:c.7241_7243delinsGTTT MANE Select NP_003997.2:p.Asn2414SerfsTer13
NM_004011.4:c.3218_3220delinsGTTT NP_004002.3:p.Asn1073SerfsTer13
NM_004012.4:c.3209_3211delinsGTTT NP_004003.2:p.Asn1070SerfsTer13
NM_004021.3:c.-140_-138delinsGTTT NP_004012.2:n.-140_-138delinsGTTT
NM_004023.3:c.-140_-138delinsGTTT NP_004014.2:n.-140_-138delinsGTTT
NM_004013.3:c.-140_-138delinsGTTT NP_004004.2:n.-140_-138delinsGTTT
NM_004020.4:c.-140_-138delinsGTTT NP_004011.3:n.-140_-138delinsGTTT
NM_004022.3:c.-140_-138delinsGTTT NP_004013.2:n.-140_-138delinsGTTT
Search 100 bp 5'
Search 100 bp 3'