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: CA627150415

Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v2: 17-62049830-TCTAAGGTGGGAGAGAGGCTGTGAGACCCAGGGACAGACAGACAGGCAGACAGATGGATGGATGGCAGACAGACAGAGGAAGCCTTCCCAGGCCCAGAC-T

gnomAD v3: 17-63972470-TCTAAGGTGGGAGAGAGGCTGTGAGACCCAGGGACAGACAGACAGGCAGACAGATGGATGGATGGCAGACAGACAGAGGAAGCCTTCCCAGGCCCAGAC-T

gnomAD v4: 17-63972470-TCTAAGGTGGGAGAGAGGCTGTGAGACCCAGGGACAGACAGACAGGCAGACAGATGGATGGATGGCAGACAGACAGAGGAAGCCTTCCCAGGCCCAGAC-T

MyVariant Identifiers: chr17:g.62049831_62049928del (hg19) chr17:g.63972471_63972568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63972473_63972570del , CM000679.2:g.63972473_63972570del	GRCh38
NC_000017.10:g.62049833_62049930del , CM000679.1:g.62049833_62049930del	GRCh37
NC_000017.9:g.59403565_59403662del	NCBI36
NG_011699.1:g.5351_5448del

Transcript Alleles

HGVS	Amino-acid change
ENST00000435607.3:c.273+1_274-1del
ENST00000578147.5:c.273+1_274-1del
NM_000334.4:c.273+1_274-1del
XM_005257566.3:c.273+1_274-1del

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