Canonical Allele Identifier: CA695031720

Gene: COL4A1

Linked Data

• dbSNP Id: rs1185708917
• gnomAD v3: 13-110169521-CACACAT-C
• gnomAD v4: 13-110169521-CACACAT-C
• MyVariant Identifiers: chr13:g.110821869_110821874del (hg19) ; chr13:g.110169522_110169527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169523_110169528del , CM000675.2:g.110169523_110169528del	GRCh38
NC_000013.10:g.110821870_110821875del , CM000675.1:g.110821870_110821875del	GRCh37
NC_000013.9:g.109619871_109619876del	NCBI36
NG_011544.2:g.142623_142628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+102_3876+107del MANE Select	ENSP00000364979.4:n.3876+102_3876+107del
ENST00000650424.1:c.32+102_32+107del
ENST00000375820.8:c.3876+102_3876+107del	ENSP00000364979.4:n.3876+102_3876+107del
NM_001845.5:c.3876+102_3876+107del	NP_001836.3:n.3876+102_3876+107del
XM_011521048.1:c.3684+102_3684+107del	XP_011519350.1:n.3684+102_3684+107del
XM_011521048.2:c.3684+102_3684+107del	XP_011519350.1:n.3684+102_3684+107del
NM_001845.6:c.3876+102_3876+107del MANE Select	NP_001836.3:n.3876+102_3876+107del