Canonical Allele Identifier: CA916734437

Gene: COL3A1

Linked Data

• dbSNP Id: rs1576462344
• gnomAD v4: 2-188988529-TGTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988530_188988533del , CM000664.2:g.188988530_188988533del	GRCh38
NC_000002.11:g.189853256_189853259del , CM000664.1:g.189853256_189853259del	GRCh37
NC_000002.10:g.189561501_189561504del	NCBI36
NG_007404.1:g.19158_19161del , LRG_3:g.19158_19161del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.583-60_583-57del	ENSP00000415346.2:n.583-60_583-57del
ENST00000304636.9:c.583-60_583-57del MANE Select	ENSP00000304408.4:n.583-60_583-57del
ENST00000304636.7:c.583-60_583-57del	ENSP00000304408.3:n.583-60_583-57del
ENST00000317840.9:c.583-60_583-57del	ENSP00000315243.6:n.583-60_583-57del
NM_000090.3:c.583-60_583-57del , LRG_3t1:c.583-60_583-57del	NP_000081.1:n.583-60_583-57del
NM_000090.4:c.583-60_583-57del MANE Select	NP_000081.2:n.583-60_583-57del