Canonical Allele Identifier: CA556485090

Gene: AGA

Linked Data

• gnomAD v2: 4-178361820-A-ATTTT
• gnomAD v3: 4-177440666-A-ATTTT
• gnomAD v4: 4-177440666-A-ATTTT
• MyVariant Identifiers: chr4:g.178361820_178361821insTTTT (hg19) ; chr4:g.177440666_177440667insTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440666_177440667insTTTT , CM000666.2:g.177440666_177440667insTTTT	GRCh38
NC_000004.11:g.178361820_178361821insTTTT , CM000666.1:g.178361820_178361821insTTTT	GRCh37
NC_000004.10:g.178598814_178598815insTTTT	NCBI36
NG_011845.2:g.6837_6838insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-241_128-240insAAAA MANE Select	ENSP00000264595.2:n.128-241_128-240insAAAA
ENST00000264595.6:c.128-241_128-240insAAAA	ENSP00000264595.2:n.128-241_128-240insAAAA
ENST00000506853.5:n.162-241_162-240insAAAA
ENST00000510955.5:n.162-241_162-240insAAAA
ENST00000511231.1:n.162-241_162-240insAAAA
NM_000027.3:c.128-241_128-240insAAAA	NP_000018.2:n.128-241_128-240insAAAA
NM_001171988.1:c.128-241_128-240insAAAA	NP_001165459.1:n.128-241_128-240insAAAA
NR_033655.1:n.256-241_256-240insAAAA
XM_006714123.2:c.128-241_128-240insAAAA	XP_006714186.1:n.128-241_128-240insAAAA
XR_001741155.2:n.222-241_222-240insAAAA
NM_000027.4:c.128-241_128-240insAAAA MANE Select	NP_000018.2:n.128-241_128-240insAAAA
NM_001171988.2:c.128-241_128-240insAAAA	NP_001165459.1:n.128-241_128-240insAAAA
NR_033655.2:n.190-241_190-240insAAAA