Canonical Allele Identifier: CA2525161445

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157255_108157256insCCCTGCACCGGCTGC , CM000685.2:g.108157255_108157256insCCCTGCACCGGCTGC	GRCh38
NC_000023.10:g.107400485_107400486insCCCTGCACCGGCTGC , CM000685.1:g.107400485_107400486insCCCTGCACCGGCTGC	GRCh37
NC_000023.9:g.107287141_107287142insCCCTGCACCGGCTGC	NCBI36
NG_012059.2:g.287219_287220insGCAGCCGGTGCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4817_4818insGCAGCCGGTGCAGGG MANE Select	ENSP00000334733.7:p.Thr1606_Ala1607insGlnProValGlnGly
ENST00000334504.11:c.4817_4818insGCAGCCGGTGCAGGG	ENSP00000334733.7:p.Thr1606_Ala1607insGlnProValGlnGly
ENST00000372216.8:c.4820_4821insGCAGCCGGTGCAGGG	ENSP00000361290.4:p.Thr1607_Ala1608insGlnProValGlnGly
ENST00000394872.6:c.4868_4869insGCAGCCGGTGCAGGG	ENSP00000378340.3:p.Thr1623_Ala1624insGlnProValGlnGly
ENST00000538570.5:c.4646_4647insGCAGCCGGTGCAGGG	ENSP00000445236.1:p.Thr1549_Ala1550insGlnProValGlnGly
ENST00000545689.2:c.4781_4782insGCAGCCGGTGCAGGG	ENSP00000443707.2:p.Thr1594_Ala1595insGlnProValGlnGly
ENST00000621266.4:c.4745_4746insGCAGCCGGTGCAGGG	ENSP00000482970.1:p.Thr1582_Ala1583insGlnProValGlnGly
NM_001287758.1:c.4868_4869insGCAGCCGGTGCAGGG	NP_001274687.1:p.Thr1623_Ala1624insGlnProValGlnGly
NM_001287759.1:c.4745_4746insGCAGCCGGTGCAGGG	NP_001274688.1:p.Thr1582_Ala1583insGlnProValGlnGly
NM_001287760.1:c.4646_4647insGCAGCCGGTGCAGGG	NP_001274689.1:p.Thr1549_Ala1550insGlnProValGlnGly
NM_001847.3:c.4820_4821insGCAGCCGGTGCAGGG	NP_001838.2:p.Thr1607_Ala1608insGlnProValGlnGly
NM_033641.3:c.4817_4818insGCAGCCGGTGCAGGG	NP_378667.1:p.Thr1606_Ala1607insGlnProValGlnGly
XM_006724617.2:c.4871_4872insGCAGCCGGTGCAGGG	XP_006724680.1:p.Thr1624_Ala1625insGlnProValGlnGly
XM_011530852.1:c.4799_4800insGCAGCCGGTGCAGGG	XP_011529154.1:p.Thr1600_Ala1601insGlnProValGlnGly
XM_011530853.1:c.4787_4788insGCAGCCGGTGCAGGG	XP_011529155.1:p.Thr1596_Ala1597insGlnProValGlnGly
XM_006724617.3:c.4871_4872insGCAGCCGGTGCAGGG	XP_006724680.1:p.Thr1624_Ala1625insGlnProValGlnGly
XM_011530852.2:c.4799_4800insGCAGCCGGTGCAGGG	XP_011529154.1:p.Thr1600_Ala1601insGlnProValGlnGly
XM_011530853.3:c.4787_4788insGCAGCCGGTGCAGGG	XP_011529155.1:p.Thr1596_Ala1597insGlnProValGlnGly
NM_001847.4:c.4820_4821insGCAGCCGGTGCAGGG	NP_001838.2:p.Thr1607_Ala1608insGlnProValGlnGly
NM_033641.4:c.4817_4818insGCAGCCGGTGCAGGG MANE Select	NP_378667.1:p.Thr1606_Ala1607insGlnProValGlnGly
NM_001287758.2:c.4868_4869insGCAGCCGGTGCAGGG	NP_001274687.1:p.Thr1623_Ala1624insGlnProValGlnGly
NM_001287759.2:c.4745_4746insGCAGCCGGTGCAGGG	NP_001274688.1:p.Thr1582_Ala1583insGlnProValGlnGly
NM_001287760.2:c.4646_4647insGCAGCCGGTGCAGGG	NP_001274689.1:p.Thr1549_Ala1550insGlnProValGlnGly