Canonical Allele Identifier: CA675870780

Gene: PAMR1

Linked Data

• dbSNP Id: rs1297990582
• gnomAD v3: 11-35489215-T-TA
• gnomAD v4: 11-35489215-T-TA
• MyVariant Identifiers: chr11:g.35510763_35510764insA (hg19) ; chr11:g.35489215_35489216insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.35489216dup , CM000673.2:g.35489216dup	GRCh38
NC_000011.9:g.35510764dup , CM000673.1:g.35510764dup	GRCh37
NC_000011.8:g.35467340dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619888.5:c.379+2829dup MANE Select	ENSP00000483703.1:n.379+2829dup
ENST00000527605.5:c.259+2829dup	ENSP00000432591.1:n.259+2829dup
ENST00000529303.1:c.379+2829dup	ENSP00000433024.1:n.379+2829dup
ENST00000534803.1:n.391+2829dup
ENST00000611014.4:c.-532+2829dup	ENSP00000478867.1:n.-532+2829dup
ENST00000615849.4:c.379+2829dup	ENSP00000479260.1:n.379+2829dup
ENST00000619888.4:c.379+2829dup	ENSP00000483703.1:n.379+2829dup
ENST00000621476.4:c.259+2829dup	ENSP00000480961.1:n.259+2829dup
ENST00000622144.4:c.379+2829dup	ENSP00000482899.1:n.379+2829dup
NM_001001991.2:c.379+2829dup	NP_001001991.1:n.379+2829dup
NM_001282675.1:c.259+2829dup	NP_001269604.1:n.259+2829dup
NM_001282676.1:c.379+2829dup	NP_001269605.1:n.379+2829dup
NM_015430.3:c.379+2829dup	NP_056245.2:n.379+2829dup
NM_001001991.3:c.379+2829dup MANE Select	NP_001001991.1:n.379+2829dup
NM_015430.4:c.379+2829dup	NP_056245.2:n.379+2829dup
NM_001282675.2:c.259+2829dup	NP_001269604.1:n.259+2829dup
NM_001282676.2:c.379+2829dup	NP_001269605.1:n.379+2829dup