Canonical Allele Identifier: CA2689954655
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37428564_37428565del , CM000671.2:g.37428564_37428565del GRCh38
NC_000009.11:g.37428561_37428562del , CM000671.1:g.37428561_37428562del GRCh37
NC_000009.10:g.37418561_37418562del NCBI36
NG_008135.1:g.10855_10856del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.485_486del MANE Select ENSP00000313432.6:p.Gly162AlafsTer28
ENST00000318158.10:c.485_486del ENSP00000313432.6:p.Gly162AlafsTer28
ENST00000377824.8:n.522_523del
ENST00000460882.5:n.512_513del
ENST00000480596.5:n.27_28del
ENST00000491488.5:n.190_191del
ENST00000493368.5:n.542_543del
ENST00000497693.1:n.859_860del
ENST00000607784.1:c.485_486del ENSP00000475569.1:p.Gly162AlafsTer28
NM_012203.1:c.485_486del NP_036335.1:p.Gly162AlafsTer28
XM_005251631.1:c.164_165del XP_005251688.1:p.Gly55AlafsTer28
XM_011518073.1:c.-278_-277del XP_011516375.1:n.-278_-277del
XR_929374.1:n.570_571del
XM_017015320.2:c.485_486del XP_016870809.1:p.Gly162AlafsTer28
XM_017015321.2:c.485_486del XP_016870810.1:p.Gly162AlafsTer28
XM_017015323.2:c.-278_-277del XP_016870812.1:n.-278_-277del
XM_024447716.1:c.758_759del XP_024303484.1:p.Gly253AlafsTer28
XM_024447717.1:c.758_759del XP_024303485.1:p.Gly253AlafsTer28
XR_002956828.1:n.773_774del
XR_002956829.1:n.773_774del
XR_002956830.1:n.544_545del
XR_002956831.1:n.219_220del
XR_002956832.1:n.544_545del
NM_012203.2:c.485_486del MANE Select NP_036335.1:p.Gly162AlafsTer28