Canonical Allele Identifier: CA612622566

Gene: COL4A1

Linked Data

• dbSNP Id: rs1566345815
• gnomAD v2: 13-110821862-C-CACACAG
• gnomAD v3: 13-110169515-C-CACACAG
• gnomAD v4: 13-110169515-C-CACACAG
• MyVariant Identifiers: chr13:g.110821862_110821863insACACAG (hg19) ; chr13:g.110169515_110169516insACACAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169520_110169521insGACACA , CM000675.2:g.110169520_110169521insGACACA	GRCh38
NC_000013.10:g.110821867_110821868insGACACA , CM000675.1:g.110821867_110821868insGACACA	GRCh37
NC_000013.9:g.109619868_109619869insGACACA	NCBI36
NG_011544.2:g.142634_142635insCTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+113_3876+114insCTGTGT MANE Select	ENSP00000364979.4:n.3876+113_3876+114insCTGTGT
ENST00000650424.1:c.32+113_32+114insCTGTGT
ENST00000375820.8:c.3876+113_3876+114insCTGTGT	ENSP00000364979.4:n.3876+113_3876+114insCTGTGT
NM_001845.5:c.3876+113_3876+114insCTGTGT	NP_001836.3:n.3876+113_3876+114insCTGTGT
XM_011521048.1:c.3684+113_3684+114insCTGTGT	XP_011519350.1:n.3684+113_3684+114insCTGTGT
XM_011521048.2:c.3684+113_3684+114insCTGTGT	XP_011519350.1:n.3684+113_3684+114insCTGTGT
NM_001845.6:c.3876+113_3876+114insCTGTGT MANE Select	NP_001836.3:n.3876+113_3876+114insCTGTGT