Canonical Allele Identifier: CA3266592
Gene: MCIDAS HGNC NCBI

Linked Data

ClinVar Variation Id: 454527
ClinVar RCV Id: RCV000549202 RCV002490935 RCV003935393
dbSNP Id: rs771063151
ExAC: 5:54522500 G / GCGGGGAGA
gnomAD v2: 5-54522500-G-GCGGGGAGA
gnomAD v3: 5-55226672-G-GCGGGGAGA
gnomAD v4: 5-55226672-G-GCGGGGAGA
MyVariant Identifiers: chr5:g.54522501_54522508dup (hg19) chr5:g.54522500_54522501insCGGGGAGA (hg19) chr5:g.55226673_55226680dup (hg38) chr5:g.55226672_55226673insCGGGGAGA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.55226674_55226681dup , CM000667.2:g.55226674_55226681dup GRCh38
NC_000005.9:g.54522502_54522509dup , CM000667.1:g.54522502_54522509dup GRCh37
NC_000005.8:g.54558259_54558266dup NCBI36
NG_051620.1:g.5636_5643dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000513312.3:c.218-13_218-6dup MANE Select ENSP00000426359.1:n.218-13_218-6dup
ENST00000513312.1:c.218-13_218-6dup ENSP00000426359.1:n.218-13_218-6dup
ENST00000513468.5:c.218-13_218-6dup ENSP00000422165.1:n.218-13_218-6dup
ENST00000515336.1:n.155-13_155-6dup
NM_001190787.1:c.218-13_218-6dup NP_001177716.1:n.218-13_218-6dup
XM_017009439.2:c.-636+155_-636+162dup XP_016864928.1:n.-636+155_-636+162dup
NM_001190787.3:c.218-13_218-6dup MANE Select NP_001177716.1:n.218-13_218-6dup
Search 100 bp 5'
Search 100 bp 3'