Canonical Allele Identifier: CA2623672684

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110169525-CATATAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169529_110169534del , CM000675.2:g.110169529_110169534del	GRCh38
NC_000013.10:g.110821876_110821881del , CM000675.1:g.110821876_110821881del	GRCh37
NC_000013.9:g.109619877_109619882del	NCBI36
NG_011544.2:g.142619_142624del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+98_3876+103del MANE Select	ENSP00000364979.4:n.3876+98_3876+103del
ENST00000650424.1:c.32+98_32+103del
ENST00000375820.8:c.3876+98_3876+103del	ENSP00000364979.4:n.3876+98_3876+103del
NM_001845.5:c.3876+98_3876+103del	NP_001836.3:n.3876+98_3876+103del
XM_011521048.1:c.3684+98_3684+103del	XP_011519350.1:n.3684+98_3684+103del
XM_011521048.2:c.3684+98_3684+103del	XP_011519350.1:n.3684+98_3684+103del
NM_001845.6:c.3876+98_3876+103del MANE Select	NP_001836.3:n.3876+98_3876+103del