Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.19705859_19705861delinsGGA , CM000686.2:g.19705859_19705861delinsGGA	GRCh38
NC_000024.9:g.21867745_21867747delinsGGA , CM000686.1:g.21867745_21867747delinsGGA	GRCh37
NC_000024.8:g.20327133_20327135delinsGGA	NCBI36
NG_032920.1:g.44079_44081delinsTCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000317961.9:c.134_136delinsTCC MANE Select	ENSP00000322408.4:n.134_136delinsTCC
ENST00000317961.8:c.134_136delinsTCC	ENSP00000322408.4:n.134_136delinsTCC
ENST00000382806.6:c.134_136delinsTCC	ENSP00000372256.2:n.134_136delinsTCC
ENST00000469599.6:n.3505_3507delinsTCC
ENST00000492117.1:n.4799_4801delinsTCC
ENST00000541639.5:c.134_136delinsTCC	ENSP00000444293.1:n.134_136delinsTCC
NM_001146705.1:c.134_136delinsTCC	NP_001140177.1:n.134_136delinsTCC
NM_001146706.1:c.134_136delinsTCC	NP_001140178.1:n.134_136delinsTCC
NM_004653.4:c.134_136delinsTCC	NP_004644.2:n.134_136delinsTCC
XM_005262560.1:c.134_136delinsTCC	XP_005262617.1:n.134_136delinsTCC
XM_005262561.1:c.134_136delinsTCC	XP_005262618.1:n.134_136delinsTCC
XM_011531468.1:c.134_136delinsTCC	XP_011529770.1:n.134_136delinsTCC
XR_430568.2:n.5529_5531delinsTCC
XM_005262560.3:c.134_136delinsTCC	XP_005262617.1:n.134_136delinsTCC
XM_005262561.3:c.134_136delinsTCC	XP_005262618.1:n.134_136delinsTCC
XM_011531468.3:c.134_136delinsTCC	XP_011529770.1:n.134_136delinsTCC
XM_024452495.1:c.134_136delinsTCC	XP_024308263.1:n.134_136delinsTCC
XM_024452496.1:c.134_136delinsTCC	XP_024308264.1:n.134_136delinsTCC
XR_001756009.2:n.5492_5494delinsTCC
XR_001756010.2:n.5460_5462delinsTCC
XR_001756011.2:n.5357_5359delinsTCC
XR_001756012.2:n.5505_5507delinsTCC
XR_001756013.2:n.4823_4825delinsTCC
XR_002958832.1:n.5077_5079delinsTCC
XR_002958834.1:n.5148_5150delinsTCC
XR_002958835.1:n.5031_5033delinsTCC
XR_002958836.1:n.5682_5684delinsTCC
XR_002958837.1:n.5489_5491delinsTCC
XR_244571.4:n.5009_5011delinsTCC
XR_430568.4:n.5528_5530delinsTCC
NM_001146706.2:c.134_136delinsTCC	NP_001140178.1:n.134_136delinsTCC
NM_004653.5:c.134_136delinsTCC MANE Select	NP_004644.2:n.134_136delinsTCC
NM_001146705.2:c.134_136delinsTCC	NP_001140177.1:n.134_136delinsTCC

HGVS	Amino-acid change
ENST00000317961.9:c.134_136delinsTCC MANE Select	ENSP00000322408.4:n.134_136delinsTCC
ENST00000317961.8:c.134_136delinsTCC	ENSP00000322408.4:n.134_136delinsTCC
ENST00000382806.6:c.134_136delinsTCC	ENSP00000372256.2:n.134_136delinsTCC
ENST00000469599.6:n.3505_3507delinsTCC
ENST00000492117.1:n.4799_4801delinsTCC
ENST00000541639.5:c.134_136delinsTCC	ENSP00000444293.1:n.134_136delinsTCC
NM_001146705.1:c.134_136delinsTCC	NP_001140177.1:n.134_136delinsTCC
NM_001146706.1:c.134_136delinsTCC	NP_001140178.1:n.134_136delinsTCC
NM_004653.4:c.134_136delinsTCC	NP_004644.2:n.134_136delinsTCC
XM_005262560.1:c.134_136delinsTCC	XP_005262617.1:n.134_136delinsTCC
XM_005262561.1:c.134_136delinsTCC	XP_005262618.1:n.134_136delinsTCC
XM_011531468.1:c.134_136delinsTCC	XP_011529770.1:n.134_136delinsTCC
XR_430568.2:n.5529_5531delinsTCC
XM_005262560.3:c.134_136delinsTCC	XP_005262617.1:n.134_136delinsTCC
XM_005262561.3:c.134_136delinsTCC	XP_005262618.1:n.134_136delinsTCC
XM_011531468.3:c.134_136delinsTCC	XP_011529770.1:n.134_136delinsTCC
XM_024452495.1:c.134_136delinsTCC	XP_024308263.1:n.134_136delinsTCC
XM_024452496.1:c.134_136delinsTCC	XP_024308264.1:n.134_136delinsTCC
XR_001756009.2:n.5492_5494delinsTCC
XR_001756010.2:n.5460_5462delinsTCC
XR_001756011.2:n.5357_5359delinsTCC
XR_001756012.2:n.5505_5507delinsTCC
XR_001756013.2:n.4823_4825delinsTCC
XR_002958832.1:n.5077_5079delinsTCC
XR_002958834.1:n.5148_5150delinsTCC
XR_002958835.1:n.5031_5033delinsTCC
XR_002958836.1:n.5682_5684delinsTCC
XR_002958837.1:n.5489_5491delinsTCC
XR_244571.4:n.5009_5011delinsTCC
XR_430568.4:n.5528_5530delinsTCC
NM_001146706.2:c.134_136delinsTCC	NP_001140178.1:n.134_136delinsTCC
NM_004653.5:c.134_136delinsTCC MANE Select	NP_004644.2:n.134_136delinsTCC
NM_001146705.2:c.134_136delinsTCC	NP_001140177.1:n.134_136delinsTCC