Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.211376877_211376880delinsTGAG , CM000664.2:g.211376877_211376880delinsTGAG	GRCh38
NC_000002.11:g.212241602_212241605delinsTGAG , CM000664.1:g.212241602_212241605delinsTGAG	GRCh37
NC_000002.10:g.211949847_211949850delinsTGAG	NCBI36
NG_011805.1:g.1166748_1166751delinsCTCA
NG_011805.2:g.1166749_1166752delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342788.9:c.6735_6738delinsCTCA MANE Select	ENSP00000342235.4:n.6735_6738delinsCTCA
ENST00000402597.6:c.10536_10539delinsCTCA	ENSP00000385565.3:n.10536_10539delinsCTCA
ENST00000342788.8:c.6735_6738delinsCTCA	ENSP00000342235.4:n.6735_6738delinsCTCA
ENST00000402597.5:c.6735_6738delinsCTCA	ENSP00000385565.2:n.6735_6738delinsCTCA
ENST00000436443.5:c.6735_6738delinsCTCA	ENSP00000403204.1:n.6735_6738delinsCTCA
NM_001042599.1:c.6735_6738delinsCTCA	NP_001036064.1:n.6735_6738delinsCTCA
NM_005235.2:c.6735_6738delinsCTCA	NP_005226.1:n.6735_6738delinsCTCA
XM_005246375.1:c.6735_6738delinsCTCA	XP_005246432.1:n.6735_6738delinsCTCA
XM_005246376.1:c.6735_6738delinsCTCA	XP_005246433.1:n.6735_6738delinsCTCA
XM_005246377.1:c.6735_6738delinsCTCA	XP_005246434.1:n.6735_6738delinsCTCA
XM_006712364.1:c.6735_6738delinsCTCA	XP_006712427.1:n.6735_6738delinsCTCA
XM_005246376.3:c.6735_6738delinsCTCA	XP_005246433.1:n.6735_6738delinsCTCA
XM_005246377.3:c.6735_6738delinsCTCA	XP_005246434.1:n.6735_6738delinsCTCA
XM_006712364.3:c.6735_6738delinsCTCA	XP_006712427.1:n.6735_6738delinsCTCA
XM_017003577.2:c.6735_6738delinsCTCA	XP_016859066.1:n.6735_6738delinsCTCA
XM_017003578.2:c.6735_6738delinsCTCA	XP_016859067.1:n.6735_6738delinsCTCA
XM_017003579.2:c.6735_6738delinsCTCA	XP_016859068.1:n.6735_6738delinsCTCA
XM_017003580.2:c.6735_6738delinsCTCA	XP_016859069.1:n.6735_6738delinsCTCA
XM_017003581.2:c.6735_6738delinsCTCA	XP_016859070.1:n.6735_6738delinsCTCA
XM_017003582.1:c.6735_6738delinsCTCA	XP_016859071.1:n.6735_6738delinsCTCA
NM_005235.3:c.6735_6738delinsCTCA MANE Select	NP_005226.1:n.6735_6738delinsCTCA

HGVS	Amino-acid Change
ENST00000342788.9:c.6735_6738delinsCTCA MANE Select	ENSP00000342235.4:n.6735_6738delinsCTCA
ENST00000402597.6:c.10536_10539delinsCTCA	ENSP00000385565.3:n.10536_10539delinsCTCA
ENST00000342788.8:c.6735_6738delinsCTCA	ENSP00000342235.4:n.6735_6738delinsCTCA
ENST00000402597.5:c.6735_6738delinsCTCA	ENSP00000385565.2:n.6735_6738delinsCTCA
ENST00000436443.5:c.6735_6738delinsCTCA	ENSP00000403204.1:n.6735_6738delinsCTCA
NM_001042599.1:c.6735_6738delinsCTCA	NP_001036064.1:n.6735_6738delinsCTCA
NM_005235.2:c.6735_6738delinsCTCA	NP_005226.1:n.6735_6738delinsCTCA
XM_005246375.1:c.6735_6738delinsCTCA	XP_005246432.1:n.6735_6738delinsCTCA
XM_005246376.1:c.6735_6738delinsCTCA	XP_005246433.1:n.6735_6738delinsCTCA
XM_005246377.1:c.6735_6738delinsCTCA	XP_005246434.1:n.6735_6738delinsCTCA
XM_006712364.1:c.6735_6738delinsCTCA	XP_006712427.1:n.6735_6738delinsCTCA
XM_005246376.3:c.6735_6738delinsCTCA	XP_005246433.1:n.6735_6738delinsCTCA
XM_005246377.3:c.6735_6738delinsCTCA	XP_005246434.1:n.6735_6738delinsCTCA
XM_006712364.3:c.6735_6738delinsCTCA	XP_006712427.1:n.6735_6738delinsCTCA
XM_017003577.2:c.6735_6738delinsCTCA	XP_016859066.1:n.6735_6738delinsCTCA
XM_017003578.2:c.6735_6738delinsCTCA	XP_016859067.1:n.6735_6738delinsCTCA
XM_017003579.2:c.6735_6738delinsCTCA	XP_016859068.1:n.6735_6738delinsCTCA
XM_017003580.2:c.6735_6738delinsCTCA	XP_016859069.1:n.6735_6738delinsCTCA
XM_017003581.2:c.6735_6738delinsCTCA	XP_016859070.1:n.6735_6738delinsCTCA
XM_017003582.1:c.6735_6738delinsCTCA	XP_016859071.1:n.6735_6738delinsCTCA
NM_005235.3:c.6735_6738delinsCTCA MANE Select	NP_005226.1:n.6735_6738delinsCTCA