Canonical Allele Identifier: CA948669770
Gene: HMGA2 HGNC NCBI

Linked Data

gnomAD v3: 12-65958107-CTAGTGCCG-C
gnomAD v4: 12-65958107-CTAGTGCCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65958109_65958116del , CM000674.2:g.65958109_65958116del GRCh38
NC_000012.11:g.66351889_66351896del , CM000674.1:g.66351889_66351896del GRCh37
NC_000012.10:g.64638156_64638163del NCBI36
NG_016296.1:g.138650_138657del

Transcript Alleles

HGVS Amino-acid Change
ENST00000403681.7:c.283-5136_283-5129del MANE Select ENSP00000384026.2:n.283-5136_283-5129del
ENST00000403681.6:c.283-5136_283-5129del ENSP00000384026.2:n.283-5136_283-5129del
ENST00000539662.1:c.320-5136_320-5129del ENSP00000440919.1:n.320-5136_320-5129del
ENST00000541363.5:c.*6676_*6683del ENSP00000439317.1:n.*6676_*6683del
NM_003483.4:c.283-5136_283-5129del NP_003474.1:n.283-5136_283-5129del
NM_003483.6:c.283-5136_283-5129del MANE Select NP_003474.1:n.283-5136_283-5129del
Search 100 bp 5'
Search 100 bp 3'