Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235489110_235489111delinsAG , CM000663.2:g.235489110_235489111delinsAG	GRCh38
NC_000001.10:g.235652415_235652416delinsAG , CM000663.1:g.235652415_235652416delinsAG	GRCh37
NC_000001.9:g.233719038_233719039delinsAG	NCBI36
NG_033219.2:g.20371_20372delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.361+57_361+58delinsCT MANE Select	ENSP00000355559.3:n.361+57_361+58delinsCT
ENST00000675193.1:c.484+57_484+58delinsCT	ENSP00000502069.1:n.484+57_484+58delinsCT
ENST00000675555.1:c.139+57_139+58delinsCT	ENSP00000501896.1:n.139+57_139+58delinsCT
ENST00000676288.1:c.484+57_484+58delinsCT	ENSP00000502392.1:n.484+57_484+58delinsCT
ENST00000313984.3:c.484+57_484+58delinsCT	ENSP00000315678.3:n.484+57_484+58delinsCT
ENST00000366600.7:c.361+57_361+58delinsCT	ENSP00000355559.3:n.361+57_361+58delinsCT
ENST00000494378.1:n.434-4596_434-4595delinsCT
ENST00000612859.4:c.261-4596_261-4595delinsCT	ENSP00000481548.1:n.261-4596_261-4595delinsCT
NM_001277155.2:c.484+57_484+58delinsCT	NP_001264084.1:n.484+57_484+58delinsCT
NM_152490.4:c.361+57_361+58delinsCT	NP_689703.1:n.361+57_361+58delinsCT
XM_005273071.3:c.361+57_361+58delinsCT	XP_005273128.1:n.361+57_361+58delinsCT
XM_006711749.2:c.361+57_361+58delinsCT	XP_006711812.1:n.361+57_361+58delinsCT
XM_011544096.1:c.361+57_361+58delinsCT	XP_011542398.1:n.361+57_361+58delinsCT
XM_011544097.1:c.361+57_361+58delinsCT	XP_011542399.1:n.361+57_361+58delinsCT
XM_006711749.3:c.361+57_361+58delinsCT	XP_006711812.1:n.361+57_361+58delinsCT
XM_017000394.1:c.484+57_484+58delinsCT	XP_016855883.1:n.484+57_484+58delinsCT
XM_017000395.1:c.484+57_484+58delinsCT	XP_016855884.1:n.484+57_484+58delinsCT
XR_001736987.1:n.649+57_649+58delinsCT
XR_001736988.1:n.649+57_649+58delinsCT
XR_001736989.1:n.649+57_649+58delinsCT
XR_001736990.1:n.532+57_532+58delinsCT
NM_152490.5:c.361+57_361+58delinsCT MANE Select	NP_689703.1:n.361+57_361+58delinsCT
NM_001277155.3:c.484+57_484+58delinsCT	NP_001264084.1:n.484+57_484+58delinsCT