Canonical Allele Identifier: CA2293654767

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089164_31089169delinsCAAAAA , CM000680.2:g.31089164_31089169delinsCAAAAA	GRCh38
NC_000018.9:g.28669127_28669132delinsCAAAAA , CM000680.1:g.28669127_28669132delinsCAAAAA	GRCh37
NC_000018.8:g.26923125_26923130delinsCAAAAA	NCBI36
NG_008208.2:g.18257_18262delinsTTTTTG , LRG_400:g.18257_18262delinsTTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.201+270_201+275delinsTTTTTG	ENSP00000507826.1:n.201+270_201+275delinsTTTTTG
ENST00000251081.8:c.630+270_630+275delinsTTTTTG	ENSP00000251081.6:n.630+270_630+275delinsTTTTTG
ENST00000280904.11:c.630+270_630+275delinsTTTTTG MANE Select	ENSP00000280904.6:n.630+270_630+275delinsTTTTTG
ENST00000648081.1:c.201+270_201+275delinsTTTTTG	ENSP00000497441.1:n.201+270_201+275delinsTTTTTG
ENST00000251081.6:c.630+270_630+275delinsTTTTTG	ENSP00000251081.6:n.630+270_630+275delinsTTTTTG
ENST00000280904.10:c.630+270_630+275delinsTTTTTG	ENSP00000280904.6:n.630+270_630+275delinsTTTTTG
NM_004949.4:c.630+270_630+275delinsTTTTTG	NP_004940.1:n.630+270_630+275delinsTTTTTG
NM_024422.4:c.630+270_630+275delinsTTTTTG	NP_077740.1:n.630+270_630+275delinsTTTTTG
XM_005258206.3:c.201+270_201+275delinsTTTTTG	XP_005258263.1:n.201+270_201+275delinsTTTTTG
XM_005258206.4:c.201+270_201+275delinsTTTTTG	XP_005258263.1:n.201+270_201+275delinsTTTTTG
NM_004949.5:c.630+270_630+275delinsTTTTTG	NP_004940.1:n.630+270_630+275delinsTTTTTG
NM_024422.6:c.630+270_630+275delinsTTTTTG MANE Select	NP_077740.1:n.630+270_630+275delinsTTTTTG