×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2578462603
Gene: HAND1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.154477442del , CM000667.2:g.154477442del
GRCh38
NC_000005.9:g.153857002del , CM000667.1:g.153857002del
GRCh37
NC_000005.8:g.153837195del
NCBI36
NG_052889.1:g.5824del
Transcript Alleles
HGVS
Amino-acid change
ENST00000231121.3:c.543+25del
MANE Select
ENSP00000231121.2:n.543+25del
ENST00000231121.2:c.543+25del
ENSP00000231121.2:n.543+25del
NM_004821.2:c.543+25del
NP_004812.1:n.543+25del
XM_005268531.1:c.543+25del
XP_005268588.1:n.543+25del
NM_004821.3:c.543+25del
MANE Select
NP_004812.1:n.543+25del
Search 100 bp 5'
Search 100 bp 3'