Canonical Allele Identifier: CA2554010107

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157257_108157258insCCCGGACACCTTCCCACCCGGC , CM000685.2:g.108157257_108157258insCCCGGACACCTTCCCACCCGGC	GRCh38
NC_000023.10:g.107400487_107400488insCCCGGACACCTTCCCACCCGGC , CM000685.1:g.107400487_107400488insCCCGGACACCTTCCCACCCGGC	GRCh37
NC_000023.9:g.107287143_107287144insCCCGGACACCTTCCCACCCGGC	NCBI36
NG_012059.2:g.287217_287218insGCCGGGTGGGAAGGTGTCCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4815_4816insGCCGGGTGGGAAGGTGTCCGGG MANE Select	ENSP00000334733.7:p.Thr1606AlafsTer?
ENST00000334504.11:c.4815_4816insGCCGGGTGGGAAGGTGTCCGGG	ENSP00000334733.7:p.Thr1606AlafsTer?
ENST00000372216.8:c.4818_4819insGCCGGGTGGGAAGGTGTCCGGG	ENSP00000361290.4:p.Thr1607AlafsTer?
ENST00000394872.6:c.4866_4867insGCCGGGTGGGAAGGTGTCCGGG	ENSP00000378340.3:p.Thr1623AlafsTer?
ENST00000538570.5:c.4644_4645insGCCGGGTGGGAAGGTGTCCGGG	ENSP00000445236.1:p.Thr1549AlafsTer?
ENST00000545689.2:c.4779_4780insGCCGGGTGGGAAGGTGTCCGGG	ENSP00000443707.2:p.Thr1594AlafsTer?
ENST00000621266.4:c.4743_4744insGCCGGGTGGGAAGGTGTCCGGG	ENSP00000482970.1:p.Thr1582AlafsTer?
NM_001287758.1:c.4866_4867insGCCGGGTGGGAAGGTGTCCGGG	NP_001274687.1:p.Thr1623AlafsTer?
NM_001287759.1:c.4743_4744insGCCGGGTGGGAAGGTGTCCGGG	NP_001274688.1:p.Thr1582AlafsTer?
NM_001287760.1:c.4644_4645insGCCGGGTGGGAAGGTGTCCGGG	NP_001274689.1:p.Thr1549AlafsTer?
NM_001847.3:c.4818_4819insGCCGGGTGGGAAGGTGTCCGGG	NP_001838.2:p.Thr1607AlafsTer?
NM_033641.3:c.4815_4816insGCCGGGTGGGAAGGTGTCCGGG	NP_378667.1:p.Thr1606AlafsTer?
XM_006724617.2:c.4869_4870insGCCGGGTGGGAAGGTGTCCGGG	XP_006724680.1:p.Thr1624AlafsTer?
XM_011530852.1:c.4797_4798insGCCGGGTGGGAAGGTGTCCGGG	XP_011529154.1:p.Thr1600AlafsTer?
XM_011530853.1:c.4785_4786insGCCGGGTGGGAAGGTGTCCGGG	XP_011529155.1:p.Thr1596AlafsTer?
XM_006724617.3:c.4869_4870insGCCGGGTGGGAAGGTGTCCGGG	XP_006724680.1:p.Thr1624AlafsTer?
XM_011530852.2:c.4797_4798insGCCGGGTGGGAAGGTGTCCGGG	XP_011529154.1:p.Thr1600AlafsTer?
XM_011530853.3:c.4785_4786insGCCGGGTGGGAAGGTGTCCGGG	XP_011529155.1:p.Thr1596AlafsTer?
NM_001847.4:c.4818_4819insGCCGGGTGGGAAGGTGTCCGGG	NP_001838.2:p.Thr1607AlafsTer?
NM_033641.4:c.4815_4816insGCCGGGTGGGAAGGTGTCCGGG MANE Select	NP_378667.1:p.Thr1606AlafsTer?
NM_001287758.2:c.4866_4867insGCCGGGTGGGAAGGTGTCCGGG	NP_001274687.1:p.Thr1623AlafsTer?
NM_001287759.2:c.4743_4744insGCCGGGTGGGAAGGTGTCCGGG	NP_001274688.1:p.Thr1582AlafsTer?
NM_001287760.2:c.4644_4645insGCCGGGTGGGAAGGTGTCCGGG	NP_001274689.1:p.Thr1549AlafsTer?