Canonical Allele Identifier: CA560375688
Gene: CARTPT HGNC NCBI

Linked Data

dbSNP Id: rs1236718107
gnomAD v2: 5-71015178-CTACCTCTGT-C
gnomAD v4: 5-71719351-CTACCTCTGT-C
MyVariant Identifiers: chr5:g.71015179_71015187del (hg19) chr5:g.71719352_71719360del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.71719353_71719361del , CM000667.2:g.71719353_71719361del GRCh38
NC_000005.9:g.71015180_71015188del , CM000667.1:g.71015180_71015188del GRCh37
NC_000005.8:g.71050936_71050944del NCBI36
NG_015988.1:g.5191_5199del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296777.5:c.60_68del MANE Select ENSP00000296777.4:p.Pro21_Leu23del
ENST00000296777.4:c.60_68del ENSP00000296777.4:p.Pro21_Leu23del
NM_004291.3:c.60_68del NP_004282.1:p.Pro21_Leu23del
NM_004291.4:c.60_68del MANE Select NP_004282.1:p.Pro21_Leu23del
Search 100 bp 5'
Search 100 bp 3'