Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832465_63832470delinsCAAAGG , CM000679.2:g.63832465_63832470delinsCAAAGG	GRCh38
NC_000017.10:g.61909825_61909830delinsCAAAGG , CM000679.1:g.61909825_61909830delinsCAAAGG	GRCh37
NC_000017.9:g.59263557_59263562delinsCAAAGG	NCBI36
NG_053004.1:g.15522_15527delinsCCTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584483.6:n.2343_2348delinsCCTTTG
ENST00000697953.1:n.2916_2921delinsCCTTTG
ENST00000698013.1:n.3028_3033delinsCCTTTG
ENST00000698014.1:n.3251_3256delinsCCTTTG
ENST00000698015.1:n.2344_2349delinsCCTTTG
ENST00000698016.1:c.468_473delinsCCTTTG	ENSP00000513502.1:n.468_473delinsCCTTTG
ENST00000698017.1:n.2418_2423delinsCCTTTG
ENST00000698018.1:n.2549_2554delinsCCTTTG
ENST00000698019.1:n.2747_2752delinsCCTTTG
ENST00000698020.1:n.1853_1858delinsCCTTTG
ENST00000698021.1:c.1762_1767delinsCCTTTG
ENST00000698022.1:c.468_473delinsCCTTTG	ENSP00000513504.1:n.468_473delinsCCTTTG
ENST00000698023.1:n.2447_2452delinsCCTTTG
ENST00000698024.1:n.2309_2314delinsCCTTTG
ENST00000698025.1:n.2469_2474delinsCCTTTG
ENST00000698026.1:n.1360_1365delinsCCTTTG
ENST00000698027.1:c.685_690delinsCCTTTG	ENSP00000513505.1:n.685_690delinsCCTTTG
ENST00000698028.1:n.2552_2557delinsCCTTTG
ENST00000698029.1:n.3281_3286delinsCCTTTG
ENST00000448276.7:c.468_473delinsCCTTTG MANE Select	ENSP00000392617.2:n.468_473delinsCCTTTG
ENST00000448276.6:c.468_473delinsCCTTTG	ENSP00000392617.2:n.468_473delinsCCTTTG
ENST00000613943.4:c.1953_1958delinsCCTTTG	ENSP00000483605.1:n.1953_1958delinsCCTTTG
NM_001098426.1:c.468_473delinsCCTTTG	NP_001091896.1:n.468_473delinsCCTTTG
XM_005257604.2:c.468_473delinsCCTTTG	XP_005257661.2:n.468_473delinsCCTTTG
NM_001330439.1:c.468_473delinsCCTTTG	NP_001317368.1:n.468_473delinsCCTTTG
NM_001330440.1:c.468_473delinsCCTTTG	NP_001317369.1:n.468_473delinsCCTTTG
NM_001098426.2:c.468_473delinsCCTTTG MANE Select	NP_001091896.1:n.468_473delinsCCTTTG
NM_001330440.2:c.468_473delinsCCTTTG	NP_001317369.1:n.468_473delinsCCTTTG

HGVS	Amino-acid Change
ENST00000584483.6:n.2343_2348delinsCCTTTG
ENST00000697953.1:n.2916_2921delinsCCTTTG
ENST00000698013.1:n.3028_3033delinsCCTTTG
ENST00000698014.1:n.3251_3256delinsCCTTTG
ENST00000698015.1:n.2344_2349delinsCCTTTG
ENST00000698016.1:c.468_473delinsCCTTTG	ENSP00000513502.1:n.468_473delinsCCTTTG
ENST00000698017.1:n.2418_2423delinsCCTTTG
ENST00000698018.1:n.2549_2554delinsCCTTTG
ENST00000698019.1:n.2747_2752delinsCCTTTG
ENST00000698020.1:n.1853_1858delinsCCTTTG
ENST00000698021.1:c.1762_1767delinsCCTTTG
ENST00000698022.1:c.468_473delinsCCTTTG	ENSP00000513504.1:n.468_473delinsCCTTTG
ENST00000698023.1:n.2447_2452delinsCCTTTG
ENST00000698024.1:n.2309_2314delinsCCTTTG
ENST00000698025.1:n.2469_2474delinsCCTTTG
ENST00000698026.1:n.1360_1365delinsCCTTTG
ENST00000698027.1:c.685_690delinsCCTTTG	ENSP00000513505.1:n.685_690delinsCCTTTG
ENST00000698028.1:n.2552_2557delinsCCTTTG
ENST00000698029.1:n.3281_3286delinsCCTTTG
ENST00000448276.7:c.468_473delinsCCTTTG MANE Select	ENSP00000392617.2:n.468_473delinsCCTTTG
ENST00000448276.6:c.468_473delinsCCTTTG	ENSP00000392617.2:n.468_473delinsCCTTTG
ENST00000613943.4:c.1953_1958delinsCCTTTG	ENSP00000483605.1:n.1953_1958delinsCCTTTG
NM_001098426.1:c.468_473delinsCCTTTG	NP_001091896.1:n.468_473delinsCCTTTG
XM_005257604.2:c.468_473delinsCCTTTG	XP_005257661.2:n.468_473delinsCCTTTG
NM_001330439.1:c.468_473delinsCCTTTG	NP_001317368.1:n.468_473delinsCCTTTG
NM_001330440.1:c.468_473delinsCCTTTG	NP_001317369.1:n.468_473delinsCCTTTG
NM_001098426.2:c.468_473delinsCCTTTG MANE Select	NP_001091896.1:n.468_473delinsCCTTTG
NM_001330440.2:c.468_473delinsCCTTTG	NP_001317369.1:n.468_473delinsCCTTTG