Canonical Allele Identifier: CA2641387063

Gene: DSC2

Linked Data

• gnomAD v4: 18-31079854-T-TGTAAGACCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.31079855_31079856insTAAGACCAAG , CM000680.2:g.31079855_31079856insTAAGACCAAG	GRCh38
NC_000018.9:g.28659821_28659822insTAAGACCAAG , CM000680.1:g.28659821_28659822insTAAGACCAAG	GRCh37
NC_000018.8:g.26913819_26913820insTAAGACCAAG	NCBI36
NG_008208.2:g.27571_27572insTTGGTCTTAC , LRG_400:g.27571_27572insTTGGTCTTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682357.1:c.1226_1227insTTGGTCTTAC	ENSP00000507826.1:p.Asp410TrpfsTer23
ENST00000251081.8:c.1655_1656insTTGGTCTTAC	ENSP00000251081.6:p.Asp553TrpfsTer23
ENST00000280904.11:c.1655_1656insTTGGTCTTAC MANE Select	ENSP00000280904.6:p.Asp553TrpfsTer23
ENST00000648081.1:c.1226_1227insTTGGTCTTAC	ENSP00000497441.1:p.Asp410TrpfsTer23
ENST00000251081.6:c.1655_1656insTTGGTCTTAC	ENSP00000251081.6:p.Asp553TrpfsTer23
ENST00000280904.10:c.1655_1656insTTGGTCTTAC	ENSP00000280904.6:p.Asp553TrpfsTer23
NM_004949.4:c.1655_1656insTTGGTCTTAC	NP_004940.1:p.Asp553TrpfsTer23
NM_024422.4:c.1655_1656insTTGGTCTTAC	NP_077740.1:p.Asp553TrpfsTer23
XM_005258206.3:c.1226_1227insTTGGTCTTAC	XP_005258263.1:p.Asp410TrpfsTer23
XM_005258206.4:c.1226_1227insTTGGTCTTAC	XP_005258263.1:p.Asp410TrpfsTer23
NM_004949.5:c.1655_1656insTTGGTCTTAC	NP_004940.1:p.Asp553TrpfsTer23
NM_024422.6:c.1655_1656insTTGGTCTTAC MANE Select	NP_077740.1:p.Asp553TrpfsTer23