Canonical Allele Identifier: CA2578462605
Gene: HAND1 HGNC NCBI

Linked Data

gnomAD v3: 5-154477452-GC-G
gnomAD v4: 5-154477452-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.154477456del , CM000667.2:g.154477456del GRCh38
NC_000005.9:g.153857016del , CM000667.1:g.153857016del GRCh37
NC_000005.8:g.153837209del NCBI36
NG_052889.1:g.5812del

Transcript Alleles

HGVS Amino-acid change
ENST00000231121.3:c.543+13del MANE Select ENSP00000231121.2:n.543+13del
ENST00000231121.2:c.543+13del ENSP00000231121.2:n.543+13del
NM_004821.2:c.543+13del NP_004812.1:n.543+13del
XM_005268531.1:c.543+13del XP_005268588.1:n.543+13del
NM_004821.3:c.543+13del MANE Select NP_004812.1:n.543+13del
Search 100 bp 5'
Search 100 bp 3'