Canonical Allele Identifier: CA595674025

Gene: COL17A1

Linked Data

• dbSNP Id: rs1487492755
• gnomAD v2: 10-105797983-C-CAT
• gnomAD v3: 10-104038225-C-CAT
• gnomAD v4: 10-104038225-C-CAT
• MyVariant Identifiers: chr10:g.105797983_105797984insAT (hg19) ; chr10:g.104038225_104038226insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104038226_104038227insTA , CM000672.2:g.104038226_104038227insTA	GRCh38
NC_000010.10:g.105797984_105797985insTA , CM000672.1:g.105797984_105797985insTA	GRCh37
NC_000010.9:g.105787974_105787975insTA	NCBI36
NG_007069.1:g.52655_52656insAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2935+180_2935+181insAT	ENSP00000358748.3:n.2935+180_2935+181insAT
ENST00000648076.2:c.3070+180_3070+181insAT MANE Select	ENSP00000497653.1:n.3070+180_3070+181insAT
ENST00000353479.9:c.3070+180_3070+181insAT	ENSP00000340937.5:n.3070+180_3070+181insAT
ENST00000369733.7:c.2935+180_2935+181insAT	ENSP00000358748.3:n.2935+180_2935+181insAT
NM_000494.3:c.3070+180_3070+181insAT	NP_000485.3:n.3070+180_3070+181insAT
NM_000494.4:c.3070+180_3070+181insAT MANE Select	NP_000485.3:n.3070+180_3070+181insAT