Canonical Allele Identifier: CA732472049

Gene: IBA57

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.228174830_228174831dup , CM000663.2:g.228174830_228174831dup	GRCh38
NC_000001.10:g.228362531_228362532dup , CM000663.1:g.228362531_228362532dup	GRCh37
NC_000001.9:g.226429154_226429155dup	NCBI36
NG_042231.1:g.14023_14024dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001010867.4:c.480_481dup MANE Select	NP_001010867.1:p.Ala161GlyfsTer?
ENST00000366711.4:c.480_481dup MANE Select	ENSP00000355672.3:p.Ala161GlyfsTer?
NM_001010867.2:c.480_481dup	NP_001010867.1:p.Ala161GlyfsTer?
NM_001010867.3:c.480_481dup	NP_001010867.1:p.Ala161GlyfsTer?
NM_001310327.1:c.-100_-99dup	NP_001297256.1:n.-100_-99dup
NM_001310327.2:c.-100_-99dup	NP_001297256.1:n.-100_-99dup
ENST00000366711.3:c.480_481dup	ENSP00000355672.3:p.Ala161GlyfsTer?
ENST00000484749.5:n.2480_2481dup
ENST00000546123.2:n.200_201dup
XM_006711753.2:c.480_481dup	XP_006711816.1:p.Ala161GlyfsTer?