Canonical Allele Identifier: CA1071331108

Gene: AGA

Linked Data

• gnomAD v3: 4-177440674-A-ATTTTTTTTTT
• gnomAD v4: 4-177440674-A-ATTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177440675_177440676insTTTTTTTTTT , CM000666.2:g.177440675_177440676insTTTTTTTTTT	GRCh38
NC_000004.11:g.178361829_178361830insTTTTTTTTTT , CM000666.1:g.178361829_178361830insTTTTTTTTTT	GRCh37
NC_000004.10:g.178598823_178598824insTTTTTTTTTT	NCBI36
NG_011845.2:g.6829_6830insAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.128-249_128-248insAAAAAAAAAA MANE Select	ENSP00000264595.2:n.128-249_128-248insAAAAAAAAAA
ENST00000264595.6:c.128-249_128-248insAAAAAAAAAA	ENSP00000264595.2:n.128-249_128-248insAAAAAAAAAA
ENST00000506853.5:n.162-249_162-248insAAAAAAAAAA
ENST00000510955.5:n.162-249_162-248insAAAAAAAAAA
ENST00000511231.1:n.162-249_162-248insAAAAAAAAAA
NM_000027.3:c.128-249_128-248insAAAAAAAAAA	NP_000018.2:n.128-249_128-248insAAAAAAAAAA
NM_001171988.1:c.128-249_128-248insAAAAAAAAAA	NP_001165459.1:n.128-249_128-248insAAAAAAAAAA
NR_033655.1:n.256-249_256-248insAAAAAAAAAA
XM_006714123.2:c.128-249_128-248insAAAAAAAAAA	XP_006714186.1:n.128-249_128-248insAAAAAAAAAA
XR_001741155.2:n.222-249_222-248insAAAAAAAAAA
NM_000027.4:c.128-249_128-248insAAAAAAAAAA MANE Select	NP_000018.2:n.128-249_128-248insAAAAAAAAAA
NM_001171988.2:c.128-249_128-248insAAAAAAAAAA	NP_001165459.1:n.128-249_128-248insAAAAAAAAAA
NR_033655.2:n.190-249_190-248insAAAAAAAAAA