Canonical Allele Identifier: CA791503460

Gene: AGA

Linked Data

• dbSNP Id: rs1435981191
• gnomAD v4: 4-177442143-G-GGCGCTCTTCCGT
• MyVariant Identifiers: chr4:g.178363297_178363298insGCGCTCTTCCGT (hg19) ; chr4:g.177442143_177442144insGCGCTCTTCCGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177442144_177442155dup , CM000666.2:g.177442144_177442155dup	GRCh38
NC_000004.11:g.178363298_178363309dup , CM000666.1:g.178363298_178363309dup	GRCh37
NC_000004.10:g.178600292_178600303dup	NCBI36
NG_011845.2:g.5349_5360dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.127+94_127+105dup MANE Select	ENSP00000264595.2:n.127+94_127+105dup
ENST00000264595.6:c.127+94_127+105dup	ENSP00000264595.2:n.127+94_127+105dup
ENST00000506853.5:n.161+94_161+105dup
ENST00000510955.5:n.161+94_161+105dup
ENST00000511231.1:n.161+94_161+105dup
NM_000027.3:c.127+94_127+105dup	NP_000018.2:n.127+94_127+105dup
NM_001171988.1:c.127+94_127+105dup	NP_001165459.1:n.127+94_127+105dup
NR_033655.1:n.255+94_255+105dup
XM_006714123.2:c.127+94_127+105dup	XP_006714186.1:n.127+94_127+105dup
XR_001741155.2:n.221+94_221+105dup
NM_000027.4:c.127+94_127+105dup MANE Select	NP_000018.2:n.127+94_127+105dup
NM_001171988.2:c.127+94_127+105dup	NP_001165459.1:n.127+94_127+105dup
NR_033655.2:n.189+94_189+105dup