Canonical Allele Identifier: CA1608615737
Gene: DSP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7580076_7580088delinsAAGCAGGTCATGC , CM000668.2:g.7580076_7580088delinsAAGCAGGTCATGC GRCh38
NC_000006.11:g.7580309_7580321delinsAAGCAGGTCATGC , CM000668.1:g.7580309_7580321delinsAAGCAGGTCATGC GRCh37
NC_000006.10:g.7525308_7525320delinsAAGCAGGTCATGC NCBI36
NG_008803.1:g.43440_43452delinsAAGCAGGTCATGC , LRG_423:g.43440_43452delinsAAGCAGGTCATGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3886_3898delinsAAGCAGGTCATGC ENSP00000518230.1:p.Lys1296=
ENST00000379802.8:c.3886_3898delinsAAGCAGGTCATGC MANE Select ENSP00000369129.3:p.Lys1296=
ENST00000379802.7:c.3886_3898delinsAAGCAGGTCATGC ENSP00000369129.3:p.Lys1296=
ENST00000418664.2:c.3582+304_3582+316delinsAAGCAGGTCATGC ENSP00000396591.2:n.3582+304_3582+316delinsAAGCAGGTCATGC
NM_001008844.1:c.3582+304_3582+316delinsAAGCAGGTCATGC NP_001008844.1:n.3582+304_3582+316delinsAAGCAGGTCATGC
NM_004415.2:c.3886_3898delinsAAGCAGGTCATGC , LRG_423t1:c.3886_3898delinsAAGCAGGTCATGC NP_004406.2:p.Lys1296=
XM_011514323.1:c.3886_3898delinsAAGCAGGTCATGC XP_011512625.1:p.Lys1296=
NM_001008844.2:c.3582+304_3582+316delinsAAGCAGGTCATGC NP_001008844.1:n.3582+304_3582+316delinsAAGCAGGTCATGC
NM_001319034.1:c.3886_3898delinsAAGCAGGTCATGC NP_001305963.1:p.Lys1296=
NM_004415.3:c.3886_3898delinsAAGCAGGTCATGC NP_004406.2:p.Lys1296=
NM_004415.4:c.3886_3898delinsAAGCAGGTCATGC MANE Select NP_004406.2:p.Lys1296=
NM_001008844.3:c.3582+304_3582+316delinsAAGCAGGTCATGC NP_001008844.1:n.3582+304_3582+316delinsAAGCAGGTCATGC
NM_001319034.2:c.3886_3898delinsAAGCAGGTCATGC NP_001305963.1:p.Lys1296=