Canonical Allele Identifier: CA612622543

Gene: COL4A1

Linked Data

• dbSNP Id: rs1394020591
• gnomAD v2: 13-110821568-GTCC-G
• gnomAD v3: 13-110169221-GTCC-G
• gnomAD v4: 13-110169221-GTCC-G
• MyVariant Identifiers: chr13:g.110821569_110821571del (hg19) ; chr13:g.110169222_110169224del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169226_110169228del , CM000675.2:g.110169226_110169228del	GRCh38
NC_000013.10:g.110821573_110821575del , CM000675.1:g.110821573_110821575del	GRCh37
NC_000013.9:g.109619574_109619576del	NCBI36
NG_011544.2:g.142926_142928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+405_3876+407del MANE Select	ENSP00000364979.4:n.3876+405_3876+407del
ENST00000650424.1:c.32+405_32+407del
ENST00000375820.8:c.3876+405_3876+407del	ENSP00000364979.4:n.3876+405_3876+407del
NM_001845.5:c.3876+405_3876+407del	NP_001836.3:n.3876+405_3876+407del
XM_011521048.1:c.3684+405_3684+407del	XP_011519350.1:n.3684+405_3684+407del
XM_011521048.2:c.3684+405_3684+407del	XP_011519350.1:n.3684+405_3684+407del
NM_001845.6:c.3876+405_3876+407del MANE Select	NP_001836.3:n.3876+405_3876+407del