Canonical Allele Identifier: CA2623672694

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110169526-A-ACACACACT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169526_110169527insCACACACT , CM000675.2:g.110169526_110169527insCACACACT	GRCh38
NC_000013.10:g.110821873_110821874insCACACACT , CM000675.1:g.110821873_110821874insCACACACT	GRCh37
NC_000013.9:g.109619874_109619875insCACACACT	NCBI36
NG_011544.2:g.142623_142624insAGTGTGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3876+102_3876+103insAGTGTGTG MANE Select	ENSP00000364979.4:n.3876+102_3876+103insAGTGTGTG
ENST00000650424.1:c.32+102_32+103insAGTGTGTG
ENST00000375820.8:c.3876+102_3876+103insAGTGTGTG	ENSP00000364979.4:n.3876+102_3876+103insAGTGTGTG
NM_001845.5:c.3876+102_3876+103insAGTGTGTG	NP_001836.3:n.3876+102_3876+103insAGTGTGTG
XM_011521048.1:c.3684+102_3684+103insAGTGTGTG	XP_011519350.1:n.3684+102_3684+103insAGTGTGTG
XM_011521048.2:c.3684+102_3684+103insAGTGTGTG	XP_011519350.1:n.3684+102_3684+103insAGTGTGTG
NM_001845.6:c.3876+102_3876+103insAGTGTGTG MANE Select	NP_001836.3:n.3876+102_3876+103insAGTGTGTG