Canonical Allele Identifier: CA2573055326

Gene: NDP

Linked Data

• ClinVar Variation Id: 1311771
• ClinVar RCV Id: RCV001752754
• dbSNP Id: rs2147204553

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.43949608_43949609insAAGAA , CM000685.2:g.43949608_43949609insAAGAA	GRCh38
NC_000023.10:g.43808854_43808855insAAGAA , CM000685.1:g.43808854_43808855insAAGAA	GRCh37
NC_000023.9:g.43693798_43693799insAAGAA	NCBI36
NG_009832.1:g.29070_29071insTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642620.1:c.*193_*194insTTTTC MANE Select	ENSP00000495972.1:n.*193_*194insTTTTC
ENST00000647044.1:c.*193_*194insTTTTC	ENSP00000495811.1:n.*193_*194insTTTTC
ENST00000378062.5:c.*193_*194insTTTTC	ENSP00000367301.5:n.*193_*194insTTTTC
NM_000266.3:c.*193_*194insTTTTC	NP_000257.1:n.*193_*194insTTTTC
NM_000266.4:c.*193_*194insTTTTC MANE Select	NP_000257.1:n.*193_*194insTTTTC