Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.67685902_67685903del , CM000685.2:g.67685902_67685903del	GRCh38
NC_000023.10:g.66905744_66905745del , CM000685.1:g.66905744_66905745del	GRCh37
NC_000023.9:g.66822469_66822470del	NCBI36
NG_009014.2:g.146871_146872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396043.4:c.117-108_117-107del	ENSP00000379358.4:n.117-108_117-107del
ENST00000374690.9:c.1769-108_1769-107del MANE Select	ENSP00000363822.3:n.1769-108_1769-107del
ENST00000396043.3:c.396-108_396-107del	ENSP00000379358.3:n.396-108_396-107del
ENST00000396044.8:c.1769-108_1769-107del	ENSP00000379359.3:n.1769-108_1769-107del
ENST00000612452.5:c.1769-108_1769-107del	ENSP00000484033.2:n.1769-108_1769-107del
ENST00000374690.7:c.1769-108_1769-107del	ENSP00000363822.3:n.1769-108_1769-107del
ENST00000396043.2:c.173-108_173-107del	ENSP00000379358.2:n.173-108_173-107del
ENST00000396044.7:c.1769-108_1769-107del	ENSP00000379359.3:n.1769-108_1769-107del
ENST00000504326.5:c.1769-108_1769-107del	ENSP00000421155.1:n.1769-108_1769-107del
ENST00000513847.5:n.2096-108_2096-107del
ENST00000514029.5:c.250-108_250-107del	ENSP00000425199.1:n.250-108_250-107del
ENST00000612010.4:c.121-108_121-107del	ENSP00000482407.1:n.121-108_121-107del
ENST00000612452.4:c.1199-108_1199-107del	ENSP00000484033.1:n.1199-108_1199-107del
ENST00000613054.2:c.1617-39_1617-38del	ENSP00000479013.1:n.1617-39_1617-38del
NM_000044.3:c.1769-108_1769-107del	NP_000035.2:n.1769-108_1769-107del
NM_001011645.2:c.173-108_173-107del	NP_001011645.1:n.173-108_173-107del
NM_000044.4:c.1769-108_1769-107del	NP_000035.2:n.1769-108_1769-107del
NM_001011645.3:c.173-108_173-107del	NP_001011645.1:n.173-108_173-107del
NM_001348061.1:c.1769-108_1769-107del	NP_001334990.1:n.1769-108_1769-107del
NM_001348063.1:c.1769-108_1769-107del	NP_001334992.1:n.1769-108_1769-107del
NM_001348064.1:c.1617-39_1617-38del	NP_001334993.1:n.1617-39_1617-38del
NM_000044.6:c.1769-108_1769-107del MANE Select	NP_000035.2:n.1769-108_1769-107del