Canonical Allele Identifier: CA2293654763
Gene: DSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31089162_31089163delinsCT , CM000680.2:g.31089162_31089163delinsCT GRCh38
NC_000018.9:g.28669125_28669126delinsCT , CM000680.1:g.28669125_28669126delinsCT GRCh37
NC_000018.8:g.26923123_26923124delinsCT NCBI36
NG_008208.2:g.18263_18264delinsAG , LRG_400:g.18263_18264delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682357.1:c.201+276_201+277delinsAG ENSP00000507826.1:n.201+276_201+277delinsAG
ENST00000251081.8:c.630+276_630+277delinsAG ENSP00000251081.6:n.630+276_630+277delinsAG
ENST00000280904.11:c.630+276_630+277delinsAG MANE Select ENSP00000280904.6:n.630+276_630+277delinsAG
ENST00000648081.1:c.201+276_201+277delinsAG ENSP00000497441.1:n.201+276_201+277delinsAG
ENST00000251081.6:c.630+276_630+277delinsAG ENSP00000251081.6:n.630+276_630+277delinsAG
ENST00000280904.10:c.630+276_630+277delinsAG ENSP00000280904.6:n.630+276_630+277delinsAG
NM_004949.4:c.630+276_630+277delinsAG NP_004940.1:n.630+276_630+277delinsAG
NM_024422.4:c.630+276_630+277delinsAG NP_077740.1:n.630+276_630+277delinsAG
XM_005258206.3:c.201+276_201+277delinsAG XP_005258263.1:n.201+276_201+277delinsAG
XM_005258206.4:c.201+276_201+277delinsAG XP_005258263.1:n.201+276_201+277delinsAG
NM_004949.5:c.630+276_630+277delinsAG NP_004940.1:n.630+276_630+277delinsAG
NM_024422.6:c.630+276_630+277delinsAG MANE Select NP_077740.1:n.630+276_630+277delinsAG