Canonical Allele Identifier: CA2756109441

Gene: PTH1R

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.46898020_46898022del , CM000665.2:g.46898020_46898022del	GRCh38
NC_000003.11:g.46939510_46939512del , CM000665.1:g.46939510_46939512del	GRCh37
NC_000003.10:g.46914514_46914516del	NCBI36
NG_008864.1:g.25275_25277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449590.6:c.425-54_425-52del MANE Select	ENSP00000402723.1:n.425-54_425-52del
ENST00000313049.9:c.425-54_425-52del	ENSP00000321999.4:n.425-54_425-52del
ENST00000418619.5:c.425-54_425-52del	ENSP00000411424.1:n.425-54_425-52del
ENST00000427125.6:c.425-54_425-52del	ENSP00000400977.2:n.425-54_425-52del
ENST00000428220.1:c.425-54_425-52del	ENSP00000389811.1:n.425-54_425-52del
ENST00000430002.6:c.425-54_425-52del	ENSP00000413774.2:n.425-54_425-52del
ENST00000449590.5:c.425-54_425-52del	ENSP00000402723.1:n.425-54_425-52del
ENST00000490109.1:n.445-54_445-52del
NM_000316.2:c.425-54_425-52del	NP_000307.1:n.425-54_425-52del
NM_001184744.1:c.425-54_425-52del	NP_001171673.1:n.425-54_425-52del
XM_005265344.2:c.332-54_332-52del	XP_005265401.1:n.332-54_332-52del
XM_011533967.1:c.464-54_464-52del	XP_011532269.1:n.464-54_464-52del
XM_011533968.1:c.446-54_446-52del	XP_011532270.1:n.446-54_446-52del
XM_005265344.3:c.332-54_332-52del	XP_005265401.1:n.332-54_332-52del
XM_011533967.3:c.464-54_464-52del	XP_011532269.1:n.464-54_464-52del
XM_011533968.2:c.446-54_446-52del	XP_011532270.1:n.446-54_446-52del
XM_017006932.2:c.464-54_464-52del	XP_016862421.1:n.464-54_464-52del
XM_017006933.1:c.425-54_425-52del	XP_016862422.1:n.425-54_425-52del
XM_017006934.1:c.464-54_464-52del	XP_016862423.1:n.464-54_464-52del
NM_000316.3:c.425-54_425-52del MANE Select	NP_000307.1:n.425-54_425-52del