Canonical Allele Identifier: CA5059331

Gene: GRHPR

Linked Data

• dbSNP Id: rs746000860
• ExAC: 9:37436647 CTCCTTTCCAG / C
• gnomAD v2: 9-37436647-CTCCTTTCCAG-C
• gnomAD v4: 9-37436650-CTCCTTTCCAG-C
• MyVariant Identifiers: chr9:g.37436648_37436657del (hg19) ; chr9:g.37436651_37436660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436652_37436661del , CM000671.2:g.37436652_37436661del	GRCh38
NC_000009.11:g.37436649_37436658del , CM000671.1:g.37436649_37436658del	GRCh37
NC_000009.10:g.37426649_37426658del	NCBI36
NG_008135.1:g.18943_18952del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.866-9_866del
ENST00000318158.10:c.866-9_866del
ENST00000460882.5:n.893-9_893del
ENST00000480596.5:n.1567-9_1567del
ENST00000491488.5:n.571-9_571del
ENST00000494290.1:c.*52-229_*52-220del	ENSP00000432021.1:n.*52-229_*52-220del
ENST00000497693.1:n.4434-9_4434del
NM_012203.1:c.866-9_866del
XM_005251631.1:c.545-9_545del
XM_011518073.1:c.464-9_464del
XM_017015320.2:c.946-759_946-750del	XP_016870809.1:n.946-759_946-750del
XM_017015321.2:c.866-759_866-750del	XP_016870810.1:n.866-759_866-750del
XM_017015323.2:c.544-759_544-750del	XP_016870812.1:n.544-759_544-750del
XM_024447716.1:c.1219-759_1219-750del	XP_024303484.1:n.1219-759_1219-750del
XM_024447717.1:c.1139-759_1139-750del	XP_024303485.1:n.1139-759_1139-750del
XR_002956828.1:n.1234-759_1234-750del
XR_002956829.1:n.1154-759_1154-750del
XR_002956830.1:n.2286-9_2286del
XR_002956831.1:n.1961-9_1961del
XR_002956832.1:n.1285-9_1285del
NM_012203.2:c.866-9_866del