Canonical Allele Identifier: CA2623675346

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110192302-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192307del , CM000675.2:g.110192307del	GRCh38
NC_000013.10:g.110844654del , CM000675.1:g.110844654del	GRCh37
NC_000013.9:g.109642655del	NCBI36
NG_011544.2:g.119847del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1466-19del MANE Select	ENSP00000364979.4:n.1466-19del
ENST00000543140.6:c.1466-19del	ENSP00000443348.1:n.1466-19del
ENST00000649738.1:n.1596-19del
ENST00000375820.8:c.1466-19del	ENSP00000364979.4:n.1466-19del
ENST00000543140.5:c.1466-19del	ENSP00000443348.1:n.1466-19del
NM_001303110.1:c.1466-19del	NP_001290039.1:n.1466-19del
NM_001845.5:c.1466-19del	NP_001836.3:n.1466-19del
XM_011521048.1:c.1274-19del	XP_011519350.1:n.1274-19del
XM_011521048.2:c.1274-19del	XP_011519350.1:n.1274-19del
NM_001845.6:c.1466-19del MANE Select	NP_001836.3:n.1466-19del
NM_001303110.2:c.1466-19del	NP_001290039.1:n.1466-19del