Canonical Allele Identifier: CA3146871

Gene: AGA

Linked Data

• dbSNP Id: rs775520402
• ExAC: 4:178358514 A / AT
• gnomAD v2: 4-178358514-A-AT
• gnomAD v4: 4-177437360-A-AT
• MyVariant Identifiers: chr4:g.178358514_178358515insT (hg19) ; chr4:g.177437360_177437361insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437362dup , CM000666.2:g.177437362dup	GRCh38
NC_000004.11:g.178358516dup , CM000666.1:g.178358516dup	GRCh37
NC_000004.10:g.178595510dup	NCBI36
NG_011845.2:g.10143dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.622+44dup MANE Select	ENSP00000264595.2:n.622+44dup
ENST00000264595.6:c.622+44dup	ENSP00000264595.2:n.622+44dup
ENST00000502310.5:c.277+44dup	ENSP00000423798.1:n.277+44dup
ENST00000506853.5:n.656+44dup
ENST00000510635.1:c.318+44dup
ENST00000510955.5:n.587dup
NM_000027.3:c.622+44dup	NP_000018.2:n.622+44dup
NM_001171988.1:c.622+44dup	NP_001165459.1:n.622+44dup
NR_033655.1:n.750+44dup
XM_006714123.2:c.622+44dup	XP_006714186.1:n.622+44dup
XR_001741155.2:n.716+44dup
NM_000027.4:c.622+44dup MANE Select	NP_000018.2:n.622+44dup
NM_001171988.2:c.622+44dup	NP_001165459.1:n.622+44dup
NR_033655.2:n.684+44dup