Canonical Allele Identifier: CA2694428772

Gene: COL4A6

Linked Data

• gnomAD v4: X-108156914-GCCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108156920_108156923del , CM000685.2:g.108156920_108156923del	GRCh38
NC_000023.10:g.107400150_107400153del , CM000685.1:g.107400150_107400153del	GRCh37
NC_000023.9:g.107286806_107286809del	NCBI36
NG_012059.2:g.287557_287560del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.*82_*85del MANE Select	ENSP00000334733.7:n.*82_*85del
ENST00000334504.11:c.*82_*85del	ENSP00000334733.7:n.*82_*85del
ENST00000372216.8:c.*82_*85del	ENSP00000361290.4:n.*82_*85del
ENST00000394872.6:c.*82_*85del	ENSP00000378340.3:n.*82_*85del
ENST00000538570.5:c.*82_*85del	ENSP00000445236.1:n.*82_*85del
ENST00000545689.2:c.*82_*85del	ENSP00000443707.2:n.*82_*85del
ENST00000621266.4:c.*82_*85del	ENSP00000482970.1:n.*82_*85del
NM_001287758.1:c.*82_*85del	NP_001274687.1:n.*82_*85del
NM_001287759.1:c.*82_*85del	NP_001274688.1:n.*82_*85del
NM_001287760.1:c.*82_*85del	NP_001274689.1:n.*82_*85del
NM_001847.3:c.*82_*85del	NP_001838.2:n.*82_*85del
NM_033641.3:c.*82_*85del	NP_378667.1:n.*82_*85del
XM_006724617.2:c.*82_*85del	XP_006724680.1:n.*82_*85del
XM_011530852.1:c.*82_*85del	XP_011529154.1:n.*82_*85del
XM_011530853.1:c.*82_*85del	XP_011529155.1:n.*82_*85del
XM_006724617.3:c.*82_*85del	XP_006724680.1:n.*82_*85del
XM_011530852.2:c.*82_*85del	XP_011529154.1:n.*82_*85del
XM_011530853.3:c.*82_*85del	XP_011529155.1:n.*82_*85del
NM_001847.4:c.*82_*85del	NP_001838.2:n.*82_*85del
NM_033641.4:c.*82_*85del MANE Select	NP_378667.1:n.*82_*85del
NM_001287758.2:c.*82_*85del	NP_001274687.1:n.*82_*85del
NM_001287759.2:c.*82_*85del	NP_001274688.1:n.*82_*85del
NM_001287760.2:c.*82_*85del	NP_001274689.1:n.*82_*85del