Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA540536870

Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1477528428

gnomAD v2: 2-241814517-T-TCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTC

gnomAD v4: 2-240875100-T-TCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTC

MyVariant Identifiers: chr2:g.241814517_241814518insCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTC (hg19) chr2:g.240875100_240875101insCTCCCCAGAAAGAAGATGTACTCCCGCAAGACGAAGCCCTTCTCCTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240875101_240875148dup , CM000664.2:g.240875101_240875148dup	GRCh38
NC_000002.11:g.241814518_241814565dup , CM000664.1:g.241814518_241814565dup	GRCh37
NC_000002.10:g.241463191_241463238dup	NCBI36
NG_008005.1:g.11357_11404dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000307503.4:c.681-8_720dup
ENST00000307503.3:c.681-8_720dup
ENST00000476698.1:n.333-8_372dup
NM_000030.2:c.681-8_720dup
NM_000030.3:c.681-8_720dup

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