Canonical Allele Identifier: CA2118732992

Gene: COL4A1

Linked Data

• dbSNP Id: rs1566346241

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169922_110169923insGGGAGGG , CM000675.2:g.110169922_110169923insGGGAGGG	GRCh38
NC_000013.10:g.110822269_110822270insGGGAGGG , CM000675.1:g.110822269_110822270insGGGAGGG	GRCh37
NC_000013.9:g.109620270_109620271insGGGAGGG	NCBI36
NG_011544.2:g.142227_142228insCCCTCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3743-161_3743-160insCCCTCCC MANE Select	ENSP00000364979.4:n.3743-161_3743-160insCCCTCCC
ENST00000375820.8:c.3743-161_3743-160insCCCTCCC	ENSP00000364979.4:n.3743-161_3743-160insCCCTCCC
NM_001845.5:c.3743-161_3743-160insCCCTCCC	NP_001836.3:n.3743-161_3743-160insCCCTCCC
XM_011521048.1:c.3551-161_3551-160insCCCTCCC	XP_011519350.1:n.3551-161_3551-160insCCCTCCC
XM_011521048.2:c.3551-161_3551-160insCCCTCCC	XP_011519350.1:n.3551-161_3551-160insCCCTCCC
NM_001845.6:c.3743-161_3743-160insCCCTCCC MANE Select	NP_001836.3:n.3743-161_3743-160insCCCTCCC