Canonical Allele Identifier: CA556485083

Gene: AGA

Linked Data

• dbSNP Id: rs746624930
• gnomAD v2: 4-178361805-G-GTTT
• gnomAD v3: 4-177440651-G-GTTT
• gnomAD v4: 4-177440651-G-GTTT
• MyVariant Identifiers: chr4:g.178361807_178361808insTTT (hg19) ; chr4:g.178361805_178361806insTTT (hg19) ; chr4:g.177440653_177440654insTTT (hg38) ; chr4:g.177440651_177440652insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440662_177440664dup , CM000666.2:g.177440662_177440664dup	GRCh38
NC_000004.11:g.178361816_178361818dup , CM000666.1:g.178361816_178361818dup	GRCh37
NC_000004.10:g.178598810_178598812dup	NCBI36
NG_011845.2:g.6850_6852dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-228_128-226dup MANE Select	ENSP00000264595.2:n.128-228_128-226dup
ENST00000264595.6:c.128-228_128-226dup	ENSP00000264595.2:n.128-228_128-226dup
ENST00000506853.5:n.162-228_162-226dup
ENST00000510955.5:n.162-228_162-226dup
ENST00000511231.1:n.162-228_162-226dup
NM_000027.3:c.128-228_128-226dup	NP_000018.2:n.128-228_128-226dup
NM_001171988.1:c.128-228_128-226dup	NP_001165459.1:n.128-228_128-226dup
NR_033655.1:n.256-228_256-226dup
XM_006714123.2:c.128-228_128-226dup	XP_006714186.1:n.128-228_128-226dup
XR_001741155.2:n.222-228_222-226dup
NM_000027.4:c.128-228_128-226dup MANE Select	NP_000018.2:n.128-228_128-226dup
NM_001171988.2:c.128-228_128-226dup	NP_001165459.1:n.128-228_128-226dup
NR_033655.2:n.190-228_190-226dup