Canonical Allele Identifier: CA2573140927

Gene: DSP

Linked Data

• ClinVar Variation Id: 1471981
• ClinVar RCV Id: RCV001967053
• dbSNP Id: rs2113669596

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565522_7565523insCC , CM000668.2:g.7565522_7565523insCC	GRCh38
NC_000006.11:g.7565755_7565756insCC , CM000668.1:g.7565755_7565756insCC	GRCh37
NC_000006.10:g.7510754_7510755insCC	NCBI36
NG_008803.1:g.28886_28887insCC , LRG_423:g.28886_28887insCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.939+2_939+3insCC	ENSP00000518230.1:n.939+2_939+3insCC
ENST00000682228.1:n.263+2_263+3insCC
ENST00000379802.8:c.939+2_939+3insCC MANE Select	ENSP00000369129.3:n.939+2_939+3insCC
ENST00000379802.7:c.939+2_939+3insCC	ENSP00000369129.3:n.939+2_939+3insCC
ENST00000418664.2:c.939+2_939+3insCC	ENSP00000396591.2:n.939+2_939+3insCC
ENST00000506617.1:n.459_460insCC
NM_001008844.1:c.939+2_939+3insCC	NP_001008844.1:n.939+2_939+3insCC
NM_004415.2:c.939+2_939+3insCC , LRG_423t1:c.939+2_939+3insCC	NP_004406.2:n.939+2_939+3insCC
XM_011514323.1:c.939+2_939+3insCC	XP_011512625.1:n.939+2_939+3insCC
NM_001008844.2:c.939+2_939+3insCC	NP_001008844.1:n.939+2_939+3insCC
NM_001319034.1:c.939+2_939+3insCC	NP_001305963.1:n.939+2_939+3insCC
NM_004415.3:c.939+2_939+3insCC	NP_004406.2:n.939+2_939+3insCC
NM_004415.4:c.939+2_939+3insCC MANE Select	NP_004406.2:n.939+2_939+3insCC
NM_001008844.3:c.939+2_939+3insCC	NP_001008844.1:n.939+2_939+3insCC
NM_001319034.2:c.939+2_939+3insCC	NP_001305963.1:n.939+2_939+3insCC