Canonical Allele Identifier: CA695016048

Gene: COL4A1

Linked Data

• dbSNP Id: rs1228487017
• gnomAD v3: 13-110205197-CA-C
• gnomAD v4: 13-110205197-CA-C
• MyVariant Identifiers: chr13:g.110857545del (hg19) ; chr13:g.110205198del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205198del , CM000675.2:g.110205198del	GRCh38
NC_000013.10:g.110857545del , CM000675.1:g.110857545del	GRCh37
NC_000013.9:g.109655546del	NCBI36
NG_011544.2:g.106952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.957+155del MANE Select	ENSP00000364979.4:n.957+155del
ENST00000543140.6:c.957+155del	ENSP00000443348.1:n.957+155del
ENST00000647632.1:n.745del
ENST00000647797.1:c.836+155del
ENST00000649738.1:n.1087+155del
ENST00000375820.8:c.957+155del	ENSP00000364979.4:n.957+155del
ENST00000543140.5:c.957+155del	ENSP00000443348.1:n.957+155del
NM_001303110.1:c.957+155del	NP_001290039.1:n.957+155del
NM_001845.5:c.957+155del	NP_001836.3:n.957+155del
XM_011521048.1:c.765+155del	XP_011519350.1:n.765+155del
XM_011521048.2:c.765+155del	XP_011519350.1:n.765+155del
NM_001845.6:c.957+155del MANE Select	NP_001836.3:n.957+155del
NM_001303110.2:c.957+155del	NP_001290039.1:n.957+155del