Canonical Allele Identifier: CA2623417052

Gene: ABCC4

Linked Data

• gnomAD v4: 13-95186709-G-GAGCACAAGCCTTTATGACTTTTTCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95186711_95186736dup , CM000675.2:g.95186711_95186736dup	GRCh38
NC_000013.10:g.95838965_95838990dup , CM000675.1:g.95838965_95838990dup	GRCh37
NC_000013.9:g.94636966_94636991dup	NCBI36
NG_050651.1:g.119712_119737dup
NG_050651.2:g.119712_119737dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000642524.1:c.*1544_*1569dup	ENSP00000493766.1:n.*1544_*1569dup
ENST00000643051.1:c.1511_1536dup	ENSP00000495513.1:p.Leu513MetfsTer5
ENST00000643556.1:c.1652_1677dup	ENSP00000494938.1:n.1652_1677dup
ENST00000643816.1:n.1794_1819dup
ENST00000643842.1:c.*1557_*1582dup	ENSP00000493861.1:n.*1557_*1582dup
ENST00000644471.1:n.1607_1632dup
ENST00000645237.2:c.1511_1536dup MANE Select	ENSP00000494609.1:p.Leu513MetfsTer5
ENST00000645532.1:c.1550_1575dup	ENSP00000494431.1:p.Leu526MetfsTer5
ENST00000646439.1:c.1511_1536dup	ENSP00000494751.1:p.Leu513MetfsTer5
ENST00000376887.8:c.1511_1536dup	ENSP00000366084.4:p.Leu513MetfsTer5
ENST00000536256.3:c.1286_1311dup	ENSP00000442024.1:p.Leu438MetfsTer5
ENST00000629385.1:c.1511_1536dup	ENSP00000487081.1:p.Leu513MetfsTer5
NM_001105515.2:c.1511_1536dup	NP_001098985.1:p.Leu513MetfsTer5
NM_001301829.1:c.1511_1536dup	NP_001288758.1:p.Leu513MetfsTer5
NM_001301830.1:c.1286_1311dup	NP_001288759.1:p.Leu438MetfsTer5
NM_005845.4:c.1511_1536dup	NP_005836.2:p.Leu513MetfsTer5
XM_005254025.2:c.1382_1407dup	XP_005254082.1:p.Leu470MetfsTer5
XM_006719914.1:c.1421_1446dup	XP_006719977.1:p.Leu483MetfsTer5
XM_011521047.1:c.962_987dup	XP_011519349.1:p.Leu330MetfsTer5
XM_017020319.1:c.1382_1407dup	XP_016875808.1:p.Leu470MetfsTer5
XM_017020320.2:c.1511_1536dup	XP_016875809.1:p.Leu513MetfsTer5
XM_017020322.1:c.1382_1407dup	XP_016875811.1:p.Leu470MetfsTer5
NM_001105515.3:c.1511_1536dup	NP_001098985.1:p.Leu513MetfsTer5
NM_001301829.2:c.1511_1536dup	NP_001288758.1:p.Leu513MetfsTer5
NM_001301830.2:c.1286_1311dup	NP_001288759.1:p.Leu438MetfsTer5
NM_005845.5:c.1511_1536dup MANE Select	NP_005836.2:p.Leu513MetfsTer5