Canonical Allele Identifier: CA2623672680

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110169519-CACACACAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169521_110169528del , CM000675.2:g.110169521_110169528del	GRCh38
NC_000013.10:g.110821868_110821875del , CM000675.1:g.110821868_110821875del	GRCh37
NC_000013.9:g.109619869_109619876del	NCBI36
NG_011544.2:g.142623_142630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+102_3876+109del MANE Select	ENSP00000364979.4:n.3876+102_3876+109del
ENST00000650424.1:c.32+102_32+109del
ENST00000375820.8:c.3876+102_3876+109del	ENSP00000364979.4:n.3876+102_3876+109del
NM_001845.5:c.3876+102_3876+109del	NP_001836.3:n.3876+102_3876+109del
XM_011521048.1:c.3684+102_3684+109del	XP_011519350.1:n.3684+102_3684+109del
XM_011521048.2:c.3684+102_3684+109del	XP_011519350.1:n.3684+102_3684+109del
NM_001845.6:c.3876+102_3876+109del MANE Select	NP_001836.3:n.3876+102_3876+109del