Canonical Allele Identifier: CA1515642156
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437635_177437640delinsAAAGAT , CM000666.2:g.177437635_177437640delinsAAAGAT GRCh38
NC_000004.11:g.178358789_178358794delinsAAAGAT , CM000666.1:g.178358789_178358794delinsAAAGAT GRCh37
NC_000004.10:g.178595783_178595788delinsAAAGAT NCBI36
NG_011845.2:g.9864_9869delinsATCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-121_508-116delinsATCTTT MANE Select ENSP00000264595.2:n.508-121_508-116delinsATCTTT
ENST00000264595.6:c.508-121_508-116delinsATCTTT ENSP00000264595.2:n.508-121_508-116delinsATCTTT
ENST00000502310.5:c.163-121_163-116delinsATCTTT ENSP00000423798.1:n.163-121_163-116delinsATCTTT
ENST00000506853.5:n.542-121_542-116delinsATCTTT
ENST00000510635.1:c.204-121_204-116delinsATCTTT
ENST00000510955.5:n.429-121_429-116delinsATCTTT
NM_000027.3:c.508-121_508-116delinsATCTTT NP_000018.2:n.508-121_508-116delinsATCTTT
NM_001171988.1:c.508-121_508-116delinsATCTTT NP_001165459.1:n.508-121_508-116delinsATCTTT
NR_033655.1:n.636-121_636-116delinsATCTTT
XM_006714123.2:c.508-121_508-116delinsATCTTT XP_006714186.1:n.508-121_508-116delinsATCTTT
XR_001741155.2:n.602-121_602-116delinsATCTTT
NM_000027.4:c.508-121_508-116delinsATCTTT MANE Select NP_000018.2:n.508-121_508-116delinsATCTTT
NM_001171988.2:c.508-121_508-116delinsATCTTT NP_001165459.1:n.508-121_508-116delinsATCTTT
NR_033655.2:n.570-121_570-116delinsATCTTT