Canonical Allele Identifier: CA2665482404

Gene: PTH1R

Linked Data

• gnomAD v4: 3-46898694-T-TGCACCTGTTCCTGTCCTTCATGCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46898697_46898722dup , CM000665.2:g.46898697_46898722dup	GRCh38
NC_000003.11:g.46940187_46940212dup , CM000665.1:g.46940187_46940212dup	GRCh37
NC_000003.10:g.46915191_46915216dup	NCBI36
NG_008864.1:g.25952_25977dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000449590.6:c.674_699dup MANE Select	ENSP00000402723.1:p.Ala234ThrfsTer11
ENST00000313049.9:c.674_699dup	ENSP00000321999.4:p.Ala234ThrfsTer11
ENST00000418619.5:c.674_699dup	ENSP00000411424.1:p.Ala234ThrfsTer11
ENST00000427125.6:c.674_699dup	ENSP00000400977.2:p.Ala234ThrfsTer11
ENST00000428220.1:c.674_699dup	ENSP00000389811.1:p.Ala234ThrfsTer11
ENST00000430002.6:c.674_699dup	ENSP00000413774.2:p.Ala234ThrfsTer11
ENST00000449590.5:c.674_699dup	ENSP00000402723.1:p.Ala234ThrfsTer11
ENST00000490109.1:n.694_719dup
NM_000316.2:c.674_699dup	NP_000307.1:p.Ala234ThrfsTer11
NM_001184744.1:c.674_699dup	NP_001171673.1:p.Ala234ThrfsTer11
XM_005265344.2:c.581_606dup	XP_005265401.1:p.Ala203ThrfsTer11
XM_011533967.1:c.713_738dup	XP_011532269.1:p.Ala247ThrfsTer11
XM_011533968.1:c.695_720dup	XP_011532270.1:p.Ala241ThrfsTer11
XM_005265344.3:c.581_606dup	XP_005265401.1:p.Ala203ThrfsTer11
XM_011533967.3:c.713_738dup	XP_011532269.1:p.Ala247ThrfsTer11
XM_011533968.2:c.695_720dup	XP_011532270.1:p.Ala241ThrfsTer11
XM_017006932.2:c.713_738dup	XP_016862421.1:p.Ala247ThrfsTer11
XM_017006933.1:c.674_699dup	XP_016862422.1:p.Ala234ThrfsTer11
XM_017006934.1:c.713_738dup	XP_016862423.1:p.Ala247ThrfsTer11
NM_000316.3:c.674_699dup MANE Select	NP_000307.1:p.Ala234ThrfsTer11