Canonical Allele Identifier: CA2674169317

Gene: CARTPT

Linked Data

• gnomAD v4: 5-71719577-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.71719580del , CM000667.2:g.71719580del	GRCh38
NC_000005.9:g.71015407del , CM000667.1:g.71015407del	GRCh37
NC_000005.8:g.71051163del	NCBI36
NG_015988.1:g.5418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296777.5:c.159+128del MANE Select	ENSP00000296777.4:n.159+128del
ENST00000296777.4:c.159+128del	ENSP00000296777.4:n.159+128del
NM_004291.3:c.159+128del	NP_004282.1:n.159+128del
NM_004291.4:c.159+128del MANE Select	NP_004282.1:n.159+128del