Canonical Allele Identifier: CA358783507

Gene: AGA

Linked Data

• MyVariant Identifiers: chr4:g.177439557_177439558del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439557_177439558del , CM000666.2:g.177439557_177439558del	GRCh38
NC_000004.11:g.178360711_178360712del , CM000666.1:g.178360711_178360712del	GRCh37
NC_000004.10:g.178597705_178597706del	NCBI36
NG_011845.2:g.7946_7947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+18_394+19del MANE Select	ENSP00000264595.2:n.394+18_394+19del
ENST00000264595.6:c.394+18_394+19del	ENSP00000264595.2:n.394+18_394+19del
ENST00000502310.5:c.49+18_49+19del	ENSP00000423798.1:n.49+18_49+19del
ENST00000506853.5:n.428+18_428+19del
ENST00000510635.1:c.90+18_90+19del
ENST00000510955.5:n.316-701_316-700del
NM_000027.3:c.394+18_394+19del	NP_000018.2:n.394+18_394+19del
NM_001171988.1:c.394+18_394+19del	NP_001165459.1:n.394+18_394+19del
NR_033655.1:n.522+18_522+19del
XM_006714123.2:c.394+18_394+19del	XP_006714186.1:n.394+18_394+19del
XR_001741155.2:n.488+18_488+19del
NM_000027.4:c.394+18_394+19del MANE Select	NP_000018.2:n.394+18_394+19del
NM_001171988.2:c.394+18_394+19del	NP_001165459.1:n.394+18_394+19del
NR_033655.2:n.456+18_456+19del