Canonical Allele Identifier: CA1963724311

Gene: PAMR1

Linked Data

• dbSNP Id: rs1850575357

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35489422_35489423del , CM000673.2:g.35489422_35489423del	GRCh38
NC_000011.9:g.35510970_35510971del , CM000673.1:g.35510970_35510971del	GRCh37
NC_000011.8:g.35467546_35467547del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619888.5:c.379+2624_379+2625del MANE Select	ENSP00000483703.1:n.379+2624_379+2625del
ENST00000527605.5:c.259+2624_259+2625del	ENSP00000432591.1:n.259+2624_259+2625del
ENST00000529303.1:c.379+2624_379+2625del	ENSP00000433024.1:n.379+2624_379+2625del
ENST00000534803.1:n.391+2624_391+2625del
ENST00000611014.4:c.-532+2624_-532+2625del	ENSP00000478867.1:n.-532+2624_-532+2625del
ENST00000615849.4:c.379+2624_379+2625del	ENSP00000479260.1:n.379+2624_379+2625del
ENST00000619888.4:c.379+2624_379+2625del	ENSP00000483703.1:n.379+2624_379+2625del
ENST00000621476.4:c.259+2624_259+2625del	ENSP00000480961.1:n.259+2624_259+2625del
ENST00000622144.4:c.379+2624_379+2625del	ENSP00000482899.1:n.379+2624_379+2625del
NM_001001991.2:c.379+2624_379+2625del	NP_001001991.1:n.379+2624_379+2625del
NM_001282675.1:c.259+2624_259+2625del	NP_001269604.1:n.259+2624_259+2625del
NM_001282676.1:c.379+2624_379+2625del	NP_001269605.1:n.379+2624_379+2625del
NM_015430.3:c.379+2624_379+2625del	NP_056245.2:n.379+2624_379+2625del
NM_001001991.3:c.379+2624_379+2625del MANE Select	NP_001001991.1:n.379+2624_379+2625del
NM_015430.4:c.379+2624_379+2625del	NP_056245.2:n.379+2624_379+2625del
NM_001282675.2:c.259+2624_259+2625del	NP_001269604.1:n.259+2624_259+2625del
NM_001282676.2:c.379+2624_379+2625del	NP_001269605.1:n.379+2624_379+2625del