Canonical Allele Identifier: CA2672747817

Gene: AGA

Linked Data

• gnomAD v4: 4-177439536-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439539_177439540del , CM000666.2:g.177439539_177439540del	GRCh38
NC_000004.11:g.178360693_178360694del , CM000666.1:g.178360693_178360694del	GRCh37
NC_000004.10:g.178597687_178597688del	NCBI36
NG_011845.2:g.7966_7967del

Transcript Alleles

HGVS	Amino-acid change
ENST00000264595.7:c.394+38_394+39del MANE Select	ENSP00000264595.2:n.394+38_394+39del
ENST00000264595.6:c.394+38_394+39del	ENSP00000264595.2:n.394+38_394+39del
ENST00000502310.5:c.49+38_49+39del	ENSP00000423798.1:n.49+38_49+39del
ENST00000506853.5:n.428+38_428+39del
ENST00000510635.1:c.90+38_90+39del
ENST00000510955.5:n.316-681_316-680del
NM_000027.3:c.394+38_394+39del	NP_000018.2:n.394+38_394+39del
NM_001171988.1:c.394+38_394+39del	NP_001165459.1:n.394+38_394+39del
NR_033655.1:n.522+38_522+39del
XM_006714123.2:c.394+38_394+39del	XP_006714186.1:n.394+38_394+39del
XR_001741155.2:n.488+38_488+39del
NM_000027.4:c.394+38_394+39del MANE Select	NP_000018.2:n.394+38_394+39del
NM_001171988.2:c.394+38_394+39del	NP_001165459.1:n.394+38_394+39del
NR_033655.2:n.456+38_456+39del