Canonical Allele Identifier: CA2811993243

Gene: DSC2

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31089513_31089514insCCAAACACACCCAACACA , CM000680.2:g.31089513_31089514insCCAAACACACCCAACACA	GRCh38
NC_000018.9:g.28669476_28669477insCCAAACACACCCAACACA , CM000680.1:g.28669476_28669477insCCAAACACACCCAACACA	GRCh37
NC_000018.8:g.26923474_26923475insCCAAACACACCCAACACA	NCBI36
NG_008208.2:g.17913_17914insGTGTTGGGTGTGTTTGGT , LRG_400:g.17913_17914insGTGTTGGGTGTGTTTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.127_128insGTGTTGGGTGTGTTTGGT	ENSP00000507826.1:p.Leu42_Phe43insCysValGlyCysValTrp
ENST00000251081.8:c.556_557insGTGTTGGGTGTGTTTGGT	ENSP00000251081.6:p.Leu185_Phe186insCysValGlyCysValTrp
ENST00000280904.11:c.556_557insGTGTTGGGTGTGTTTGGT MANE Select	ENSP00000280904.6:p.Leu185_Phe186insCysValGlyCysValTrp
ENST00000648081.1:c.127_128insGTGTTGGGTGTGTTTGGT	ENSP00000497441.1:p.Leu42_Phe43insCysValGlyCysValTrp
ENST00000251081.6:c.556_557insGTGTTGGGTGTGTTTGGT	ENSP00000251081.6:p.Leu185_Phe186insCysValGlyCysValTrp
ENST00000280904.10:c.556_557insGTGTTGGGTGTGTTTGGT	ENSP00000280904.6:p.Leu185_Phe186insCysValGlyCysValTrp
NM_004949.4:c.556_557insGTGTTGGGTGTGTTTGGT	NP_004940.1:p.Leu185_Phe186insCysValGlyCysValTrp
NM_024422.4:c.556_557insGTGTTGGGTGTGTTTGGT	NP_077740.1:p.Leu185_Phe186insCysValGlyCysValTrp
XM_005258206.3:c.127_128insGTGTTGGGTGTGTTTGGT	XP_005258263.1:p.Leu42_Phe43insCysValGlyCysValTrp
XM_005258206.4:c.127_128insGTGTTGGGTGTGTTTGGT	XP_005258263.1:p.Leu42_Phe43insCysValGlyCysValTrp
NM_004949.5:c.556_557insGTGTTGGGTGTGTTTGGT	NP_004940.1:p.Leu185_Phe186insCysValGlyCysValTrp
NM_024422.6:c.556_557insGTGTTGGGTGTGTTTGGT MANE Select	NP_077740.1:p.Leu185_Phe186insCysValGlyCysValTrp