Canonical Allele Identifier: CA2694428809

Gene: COL4A6

Linked Data

• gnomAD v4: X-108156992-G-GTGCCACCCTACAGGCTTTTCATACACACCTGGCAGCGACTGACTCGAGTGTGGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108156997_108157052dup , CM000685.2:g.108156997_108157052dup	GRCh38
NC_000023.10:g.107400227_107400282dup , CM000685.1:g.107400227_107400282dup	GRCh37
NC_000023.9:g.107286883_107286938dup	NCBI36
NG_012059.2:g.287427_287482dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000334504.12:c.5025_*7dup MANE Select	ENSP00000334733.7:n.5025_*7dup
ENST00000334504.11:c.5025_*7dup	ENSP00000334733.7:n.5025_*7dup
ENST00000372216.8:c.5028_*7dup	ENSP00000361290.4:n.5028_*7dup
ENST00000394872.6:c.5076_*7dup	ENSP00000378340.3:n.5076_*7dup
ENST00000538570.5:c.4854_*7dup	ENSP00000445236.1:n.4854_*7dup
ENST00000545689.2:c.4989_*7dup	ENSP00000443707.2:n.4989_*7dup
ENST00000621266.4:c.4953_*7dup	ENSP00000482970.1:n.4953_*7dup
NM_001287758.1:c.5076_*7dup	NP_001274687.1:n.5076_*7dup
NM_001287759.1:c.4953_*7dup	NP_001274688.1:n.4953_*7dup
NM_001287760.1:c.4854_*7dup	NP_001274689.1:n.4854_*7dup
NM_001847.3:c.5028_*7dup	NP_001838.2:n.5028_*7dup
NM_033641.3:c.5025_*7dup	NP_378667.1:n.5025_*7dup
XM_006724617.2:c.5079_*7dup	XP_006724680.1:n.5079_*7dup
XM_011530852.1:c.5007_*7dup	XP_011529154.1:n.5007_*7dup
XM_011530853.1:c.4995_*7dup	XP_011529155.1:n.4995_*7dup
XM_006724617.3:c.5079_*7dup	XP_006724680.1:n.5079_*7dup
XM_011530852.2:c.5007_*7dup	XP_011529154.1:n.5007_*7dup
XM_011530853.3:c.4995_*7dup	XP_011529155.1:n.4995_*7dup
NM_001847.4:c.5028_*7dup	NP_001838.2:n.5028_*7dup
NM_033641.4:c.5025_*7dup MANE Select	NP_378667.1:n.5025_*7dup
NM_001287758.2:c.5076_*7dup	NP_001274687.1:n.5076_*7dup
NM_001287759.2:c.4953_*7dup	NP_001274688.1:n.4953_*7dup
NM_001287760.2:c.4854_*7dup	NP_001274689.1:n.4854_*7dup