Canonical Allele Identifier: CA1692830148
Gene: MACC1 HGNC NCBI

Linked Data

dbSNP Id: rs1782177294
gnomAD v4: 7-20164126-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20164129del , CM000669.2:g.20164129del GRCh38
NC_000007.13:g.20203752del , CM000669.1:g.20203752del GRCh37
NC_000007.12:g.20170277del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.-9+129del MANE Select ENSP00000383185.3:n.-9+129del
ENST00000332878.8:c.-8-2257del ENSP00000328410.4:n.-8-2257del
ENST00000400331.9:c.-9+129del ENSP00000383185.3:n.-9+129del
ENST00000589011.1:c.-8-2257del ENSP00000466864.1:n.-8-2257del
NM_182762.3:c.-9+129del NP_877439.3:n.-9+129del
NM_182762.4:c.-9+129del MANE Select NP_877439.3:n.-9+129del
Search 100 bp 5'
Search 100 bp 3'