Allele Registry

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.

Canonical Allele Identifier: CA2497464116

Gene: MEF2C-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1749415016

gnomAD v3: 5-89058785-TC-T

gnomAD v4: 5-89058785-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.89058786del , CM000667.2:g.89058786del	GRCh38
NC_000005.9:g.88354603del , CM000667.1:g.88354603del	GRCh37
NC_000005.8:g.88390359del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948549.1:n.269-36173del
NR_136217.1:n.311-36173del
NR_136218.1:n.401-36173del
NR_136219.1:n.294-36173del
NR_136220.1:n.327-36173del
NR_136221.1:n.220-36173del
NR_136222.1:n.311-36173del

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