Canonical Allele Identifier: CA2450542005

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157265_108157269delinsAACAG , CM000685.2:g.108157265_108157269delinsAACAG	GRCh38
NC_000023.10:g.107400495_107400499delinsAACAG , CM000685.1:g.107400495_107400499delinsAACAG	GRCh37
NC_000023.9:g.107287151_107287155delinsAACAG	NCBI36
NG_012059.2:g.287206_287210delinsCTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4813-9_4813-5delinsCTGTT MANE Select	ENSP00000334733.7:n.4813-9_4813-5delinsCTGTT
ENST00000334504.11:c.4813-9_4813-5delinsCTGTT	ENSP00000334733.7:n.4813-9_4813-5delinsCTGTT
ENST00000372216.8:c.4816-9_4816-5delinsCTGTT	ENSP00000361290.4:n.4816-9_4816-5delinsCTGTT
ENST00000394872.6:c.4864-9_4864-5delinsCTGTT	ENSP00000378340.3:n.4864-9_4864-5delinsCTGTT
ENST00000538570.5:c.4642-9_4642-5delinsCTGTT	ENSP00000445236.1:n.4642-9_4642-5delinsCTGTT
ENST00000545689.2:c.4777-9_4777-5delinsCTGTT	ENSP00000443707.2:n.4777-9_4777-5delinsCTGTT
ENST00000621266.4:c.4741-9_4741-5delinsCTGTT	ENSP00000482970.1:n.4741-9_4741-5delinsCTGTT
NM_001287758.1:c.4864-9_4864-5delinsCTGTT	NP_001274687.1:n.4864-9_4864-5delinsCTGTT
NM_001287759.1:c.4741-9_4741-5delinsCTGTT	NP_001274688.1:n.4741-9_4741-5delinsCTGTT
NM_001287760.1:c.4642-9_4642-5delinsCTGTT	NP_001274689.1:n.4642-9_4642-5delinsCTGTT
NM_001847.3:c.4816-9_4816-5delinsCTGTT	NP_001838.2:n.4816-9_4816-5delinsCTGTT
NM_033641.3:c.4813-9_4813-5delinsCTGTT	NP_378667.1:n.4813-9_4813-5delinsCTGTT
XM_006724617.2:c.4867-9_4867-5delinsCTGTT	XP_006724680.1:n.4867-9_4867-5delinsCTGTT
XM_011530852.1:c.4795-9_4795-5delinsCTGTT	XP_011529154.1:n.4795-9_4795-5delinsCTGTT
XM_011530853.1:c.4783-9_4783-5delinsCTGTT	XP_011529155.1:n.4783-9_4783-5delinsCTGTT
XM_006724617.3:c.4867-9_4867-5delinsCTGTT	XP_006724680.1:n.4867-9_4867-5delinsCTGTT
XM_011530852.2:c.4795-9_4795-5delinsCTGTT	XP_011529154.1:n.4795-9_4795-5delinsCTGTT
XM_011530853.3:c.4783-9_4783-5delinsCTGTT	XP_011529155.1:n.4783-9_4783-5delinsCTGTT
NM_001847.4:c.4816-9_4816-5delinsCTGTT	NP_001838.2:n.4816-9_4816-5delinsCTGTT
NM_033641.4:c.4813-9_4813-5delinsCTGTT MANE Select	NP_378667.1:n.4813-9_4813-5delinsCTGTT
NM_001287758.2:c.4864-9_4864-5delinsCTGTT	NP_001274687.1:n.4864-9_4864-5delinsCTGTT
NM_001287759.2:c.4741-9_4741-5delinsCTGTT	NP_001274688.1:n.4741-9_4741-5delinsCTGTT
NM_001287760.2:c.4642-9_4642-5delinsCTGTT	NP_001274689.1:n.4642-9_4642-5delinsCTGTT