Canonical Allele Identifier: CA540537980
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs1559571367
gnomAD v2: 2-241816795-A-AGTCCCAGGCCCT
gnomAD v4: 2-240877378-A-AGTCCCAGGCCCT
MyVariant Identifiers: chr2:g.241816795_241816796insGTCCCAGGCCCT (hg19) chr2:g.240877378_240877379insGTCCCAGGCCCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877380_240877391dup , CM000664.2:g.240877380_240877391dup GRCh38
NC_000002.11:g.241816797_241816808dup , CM000664.1:g.241816797_241816808dup GRCh37
NC_000002.10:g.241465470_241465481dup NCBI36
NG_008005.1:g.13636_13647dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-157_847-146dup MANE Select ENSP00000302620.3:n.847-157_847-146dup
ENST00000307503.3:c.847-157_847-146dup ENSP00000302620.3:n.847-157_847-146dup
ENST00000470255.1:n.468_479dup
NM_000030.2:c.847-157_847-146dup NP_000021.1:n.847-157_847-146dup
NM_000030.3:c.847-157_847-146dup MANE Select NP_000021.1:n.847-157_847-146dup
Search 100 bp 5'
Search 100 bp 3'