Canonical Allele Identifier: CA2623674608

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110179229-TCCTGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110179231_110179236del , CM000675.2:g.110179231_110179236del	GRCh38
NC_000013.10:g.110831578_110831583del , CM000675.1:g.110831578_110831583del	GRCh37
NC_000013.9:g.109629579_109629584del	NCBI36
NG_011544.2:g.132915_132920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.2344+36_2344+41del MANE Select	ENSP00000364979.4:n.2344+36_2344+41del
ENST00000649738.1:n.2474+36_2474+41del
ENST00000375820.8:c.2344+36_2344+41del	ENSP00000364979.4:n.2344+36_2344+41del
NM_001845.5:c.2344+36_2344+41del	NP_001836.3:n.2344+36_2344+41del
XM_011521048.1:c.2152+36_2152+41del	XP_011519350.1:n.2152+36_2152+41del
XM_011521048.2:c.2152+36_2152+41del	XP_011519350.1:n.2152+36_2152+41del
NM_001845.6:c.2344+36_2344+41del MANE Select	NP_001836.3:n.2344+36_2344+41del