Canonical Allele Identifier: CA791503447

Gene: AGA

Linked Data

• dbSNP Id: rs1240074008
• gnomAD v3: 4-177442133-G-GGCCCA
• gnomAD v4: 4-177442133-G-GGCCCA
• MyVariant Identifiers: chr4:g.178363287_178363288insGCCCA (hg19) ; chr4:g.177442133_177442134insGCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442138_177442142dup , CM000666.2:g.177442138_177442142dup	GRCh38
NC_000004.11:g.178363292_178363296dup , CM000666.1:g.178363292_178363296dup	GRCh37
NC_000004.10:g.178600286_178600290dup	NCBI36
NG_011845.2:g.5366_5370dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.127+111_127+115dup MANE Select	ENSP00000264595.2:n.127+111_127+115dup
ENST00000264595.6:c.127+111_127+115dup	ENSP00000264595.2:n.127+111_127+115dup
ENST00000506853.5:n.161+111_161+115dup
ENST00000510955.5:n.161+111_161+115dup
ENST00000511231.1:n.161+111_161+115dup
NM_000027.3:c.127+111_127+115dup	NP_000018.2:n.127+111_127+115dup
NM_001171988.1:c.127+111_127+115dup	NP_001165459.1:n.127+111_127+115dup
NR_033655.1:n.255+111_255+115dup
XM_006714123.2:c.127+111_127+115dup	XP_006714186.1:n.127+111_127+115dup
XR_001741155.2:n.221+111_221+115dup
NM_000027.4:c.127+111_127+115dup MANE Select	NP_000018.2:n.127+111_127+115dup
NM_001171988.2:c.127+111_127+115dup	NP_001165459.1:n.127+111_127+115dup
NR_033655.2:n.189+111_189+115dup