Canonical Allele Identifier: CA2672746381

Gene: AGA

Linked Data

• gnomAD v4: 4-177434490-C-CCATGTATTTTGAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434490_177434491insCATGTATTTTGAAT , CM000666.2:g.177434490_177434491insCATGTATTTTGAAT	GRCh38
NC_000004.11:g.178355644_178355645insCATGTATTTTGAAT , CM000666.1:g.178355644_178355645insCATGTATTTTGAAT	GRCh37
NC_000004.10:g.178592638_178592639insCATGTATTTTGAAT	NCBI36
NG_011845.2:g.13013_13014insATTCAAAATACATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.699-2_699-1insATTCAAAATACATG MANE Select	ENSP00000264595.2:n.699-2_699-1insATTCAAAATACATG
ENST00000264595.6:c.699-2_699-1insATTCAAAATACATG	ENSP00000264595.2:n.699-2_699-1insATTCAAAATACATG
ENST00000502310.5:c.278-10_278-9insATTCAAAATACATG	ENSP00000423798.1:n.278-10_278-9insATTCAAAATACATG
ENST00000506853.5:n.657-2_657-1insATTCAAAATACATG
ENST00000510635.1:c.373-10_373-9insATTCAAAATACATG
NM_000027.3:c.699-2_699-1insATTCAAAATACATG	NP_000018.2:n.699-2_699-1insATTCAAAATACATG
NM_001171988.1:c.677-10_677-9insATTCAAAATACATG	NP_001165459.1:n.677-10_677-9insATTCAAAATACATG
NR_033655.1:n.751-2_751-1insATTCAAAATACATG
XM_006714123.2:c.677-2_677-1insATTCAAAATACATG	XP_006714186.1:n.677-2_677-1insATTCAAAATACATG
XR_001741155.2:n.771-2_771-1insATTCAAAATACATG
NM_000027.4:c.699-2_699-1insATTCAAAATACATG MANE Select	NP_000018.2:n.699-2_699-1insATTCAAAATACATG
NM_001171988.2:c.677-10_677-9insATTCAAAATACATG	NP_001165459.1:n.677-10_677-9insATTCAAAATACATG
NR_033655.2:n.685-2_685-1insATTCAAAATACATG