Canonical Allele Identifier: CA960160021

Gene: COL4A1

Linked Data

• dbSNP Id: rs1877536534
• gnomAD v3: 13-110169946-A-AGGAAGGGAGGGAGGG
• gnomAD v4: 13-110169946-A-AGGAAGGGAGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169946_110169947insGGAAGGGAGGGAGGG , CM000675.2:g.110169946_110169947insGGAAGGGAGGGAGGG	GRCh38
NC_000013.10:g.110822293_110822294insGGAAGGGAGGGAGGG , CM000675.1:g.110822293_110822294insGGAAGGGAGGGAGGG	GRCh37
NC_000013.9:g.109620294_109620295insGGAAGGGAGGGAGGG	NCBI36
NG_011544.2:g.142203_142204insCCCTCCCTCCCTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-185_3743-184insCCCTCCCTCCCTTCC MANE Select	ENSP00000364979.4:n.3743-185_3743-184insCCCTCCCTCCCTTCC
ENST00000375820.8:c.3743-185_3743-184insCCCTCCCTCCCTTCC	ENSP00000364979.4:n.3743-185_3743-184insCCCTCCCTCCCTTCC
NM_001845.5:c.3743-185_3743-184insCCCTCCCTCCCTTCC	NP_001836.3:n.3743-185_3743-184insCCCTCCCTCCCTTCC
XM_011521048.1:c.3551-185_3551-184insCCCTCCCTCCCTTCC	XP_011519350.1:n.3551-185_3551-184insCCCTCCCTCCCTTCC
XM_011521048.2:c.3551-185_3551-184insCCCTCCCTCCCTTCC	XP_011519350.1:n.3551-185_3551-184insCCCTCCCTCCCTTCC
NM_001845.6:c.3743-185_3743-184insCCCTCCCTCCCTTCC MANE Select	NP_001836.3:n.3743-185_3743-184insCCCTCCCTCCCTTCC