Canonical Allele Identifier: CA1071328603

Gene: AGA

Linked Data

• dbSNP Id: rs1736749426
• gnomAD v3: 4-177434630-AGGTCTTC-A
• gnomAD v4: 4-177434630-AGGTCTTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434631_177434637del , CM000666.2:g.177434631_177434637del	GRCh38
NC_000004.11:g.178355785_178355791del , CM000666.1:g.178355785_178355791del	GRCh37
NC_000004.10:g.178592779_178592785del	NCBI36
NG_011845.2:g.12867_12873del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-148_699-142del MANE Select	ENSP00000264595.2:n.699-148_699-142del
ENST00000264595.6:c.699-148_699-142del	ENSP00000264595.2:n.699-148_699-142del
ENST00000502310.5:c.278-156_278-150del	ENSP00000423798.1:n.278-156_278-150del
ENST00000506853.5:n.657-148_657-142del
ENST00000510635.1:c.373-156_373-150del
NM_000027.3:c.699-148_699-142del	NP_000018.2:n.699-148_699-142del
NM_001171988.1:c.677-156_677-150del	NP_001165459.1:n.677-156_677-150del
NR_033655.1:n.751-148_751-142del
XM_006714123.2:c.677-148_677-142del	XP_006714186.1:n.677-148_677-142del
XR_001741155.2:n.771-148_771-142del
NM_000027.4:c.699-148_699-142del MANE Select	NP_000018.2:n.699-148_699-142del
NM_001171988.2:c.677-156_677-150del	NP_001165459.1:n.677-156_677-150del
NR_033655.2:n.685-148_685-142del