Canonical Allele Identifier: CA147912128

Gene: ENPP1

Linked Data

• dbSNP Id: rs548096888
• MyVariant Identifiers: chr6:g.132154000_132154002del (hg19) ; chr6:g.131832860_131832862del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.131832861_131832863del , CM000668.2:g.131832861_131832863del	GRCh38
NC_000006.11:g.132154001_132154003del , CM000668.1:g.132154001_132154003del	GRCh37
NC_000006.10:g.132195694_132195696del	NCBI36
NG_008206.1:g.29846_29848del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647893.1:c.241-14915_241-14913del MANE Select	ENSP00000498074.1:n.241-14915_241-14913del
ENST00000650507.1:c.247+6746_247+6748del	ENSP00000497375.1:n.247+6746_247+6748del
ENST00000360971.6:c.241-14915_241-14913del	ENSP00000354238.2:n.241-14915_241-14913del
ENST00000486853.1:n.261-14915_261-14913del
ENST00000513998.5:c.241-14915_241-14913del	ENSP00000422424.1:n.241-14915_241-14913del
NM_006208.2:c.241-14915_241-14913del	NP_006199.2:n.241-14915_241-14913del
NM_006208.3:c.241-14915_241-14913del MANE Select	NP_006199.2:n.241-14915_241-14913del