Canonical Allele Identifier: CA2359396

Gene: PTH1R

Linked Data

• ClinVar Variation Id: 345592
• ClinVar RCV Id: RCV000276202 ; RCV000317262 ; RCV002502325 ; RCV003765996 ; RCV003922513
• dbSNP Id: rs754628395
• ExAC: 3:46942896 T / TC
• gnomAD v2: 3-46942896-T-TC
• gnomAD v3: 3-46901406-T-TC
• gnomAD v4: 3-46901406-T-TC
• MyVariant Identifiers: chr3:g.46942901dupC (hg19) ; chr3:g.46942896_46942897insC (hg19) ; chr3:g.46901411dupC (hg38) ; chr3:g.46901406_46901407insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46901411dup , CM000665.2:g.46901411dup	GRCh38
NC_000003.11:g.46942901dup , CM000665.1:g.46942901dup	GRCh37
NC_000003.10:g.46917905dup	NCBI36
NG_008864.1:g.28666dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000449590.6:c.1050-3dup MANE Select	ENSP00000402723.1:n.1050-3dup
ENST00000313049.9:c.1050-3dup	ENSP00000321999.4:n.1050-3dup
ENST00000418619.5:c.1050-3dup	ENSP00000411424.1:n.1050-3dup
ENST00000427125.6:c.1050-3dup	ENSP00000400977.2:n.1050-3dup
ENST00000428220.1:c.989-3dup	ENSP00000389811.1:n.989-3dup
ENST00000430002.6:c.1050-3dup	ENSP00000413774.2:n.1050-3dup
ENST00000449590.5:c.1050-3dup	ENSP00000402723.1:n.1050-3dup
NM_000316.2:c.1050-3dup	NP_000307.1:n.1050-3dup
NM_001184744.1:c.1050-3dup	NP_001171673.1:n.1050-3dup
XM_005265344.2:c.957-3dup	XP_005265401.1:n.957-3dup
XM_011533967.1:c.1089-3dup	XP_011532269.1:n.1089-3dup
XM_011533968.1:c.1071-3dup	XP_011532270.1:n.1071-3dup
XM_005265344.3:c.957-3dup	XP_005265401.1:n.957-3dup
XM_011533967.3:c.1089-3dup	XP_011532269.1:n.1089-3dup
XM_011533968.2:c.1071-3dup	XP_011532270.1:n.1071-3dup
XM_017006932.2:c.1089-3dup	XP_016862421.1:n.1089-3dup
XM_017006933.1:c.1050-3dup	XP_016862422.1:n.1050-3dup
XM_017006934.1:c.1089-3dup	XP_016862423.1:n.1089-3dup
NM_000316.3:c.1050-3dup MANE Select	NP_000307.1:n.1050-3dup