Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.31376370_31376374del , CM000679.2:g.31376370_31376374del	GRCh38
NC_000017.10:g.29703388_29703392del , CM000679.1:g.29703388_29703392del	GRCh37
NC_000017.9:g.26727514_26727518del	NCBI36
NG_009018.1:g.286394_286398del , LRG_214:g.286394_286398del

Transcript Alleles

HGVS	Amino-acid Change
NM_001042492.3:c.2215_2219del MANE Select	NP_001035957.1:n.2215_2219del
ENST00000358273.9:c.2215_2219del MANE Select	ENSP00000351015.4:n.2215_2219del
NM_000267.3:c.2215_2219del , LRG_214t1:c.2215_2219del	NP_000258.1:n.2215_2219del
NM_001042492.2:c.2215_2219del , LRG_214t2:c.2215_2219del	NP_001035957.1:n.2215_2219del
ENST00000356175.7:c.2215_2219del	ENSP00000348498.3:n.2215_2219del
ENST00000358273.8:c.2215_2219del	ENSP00000351015.4:n.2215_2219del
ENST00000471572.6:c.1877+2241_1877+2245del
ENST00000684826.1:c.2215_2219del	ENSP00000509994.1:n.2215_2219del
ENST00000687027.1:c.2215_2219del	ENSP00000508715.1:n.2215_2219del
ENST00000689464.1:c.3839_3843del
ENST00000691014.1:c.2215_2219del	ENSP00000510595.1:n.2215_2219del
ENST00000693617.1:c.2215_2219del	ENSP00000510031.1:n.2215_2219del
ENST00000696138.1:c.2370_2374del	ENSP00000512431.1:n.2370_2374del
XM_005257983.1:c.2215_2219del	XP_005258040.1:n.2215_2219del
XM_005257984.1:c.2215_2219del	XP_005258041.1:n.2215_2219del
XM_006721922.1:c.2215_2219del	XP_006721985.1:n.2215_2219del
XM_006721923.2:c.2215_2219del	XP_006721986.1:n.2215_2219del
XM_006721924.1:c.2215_2219del	XP_006721987.1:n.2215_2219del
XM_006721925.1:c.2215_2219del	XP_006721988.1:n.2215_2219del
XM_011524852.1:c.2215_2219del	XP_011523154.1:n.2215_2219del
XM_011524853.1:c.2215_2219del	XP_011523155.1:n.2215_2219del
XM_011524854.1:c.2215_2219del	XP_011523156.1:n.2215_2219del
XM_011524855.1:c.2215_2219del	XP_011523157.1:n.2215_2219del
XM_011524856.1:c.2215_2219del	XP_011523158.1:n.2215_2219del
XM_011524857.1:c.2215_2219del	XP_011523159.1:n.2215_2219del

HGVS	Amino-acid Change
NM_001042492.3:c.2215_2219del MANE Select	NP_001035957.1:n.2215_2219del
ENST00000358273.9:c.2215_2219del MANE Select	ENSP00000351015.4:n.2215_2219del
NM_000267.3:c.2215_2219del , LRG_214t1:c.2215_2219del	NP_000258.1:n.2215_2219del
NM_001042492.2:c.2215_2219del , LRG_214t2:c.2215_2219del	NP_001035957.1:n.2215_2219del
ENST00000356175.7:c.2215_2219del	ENSP00000348498.3:n.2215_2219del
ENST00000358273.8:c.2215_2219del	ENSP00000351015.4:n.2215_2219del
ENST00000471572.6:c.1877+2241_1877+2245del
ENST00000684826.1:c.2215_2219del	ENSP00000509994.1:n.2215_2219del
ENST00000687027.1:c.2215_2219del	ENSP00000508715.1:n.2215_2219del
ENST00000689464.1:c.3839_3843del
ENST00000691014.1:c.2215_2219del	ENSP00000510595.1:n.2215_2219del
ENST00000693617.1:c.2215_2219del	ENSP00000510031.1:n.2215_2219del
ENST00000696138.1:c.2370_2374del	ENSP00000512431.1:n.2370_2374del
XM_005257983.1:c.2215_2219del	XP_005258040.1:n.2215_2219del
XM_005257984.1:c.2215_2219del	XP_005258041.1:n.2215_2219del
XM_006721922.1:c.2215_2219del	XP_006721985.1:n.2215_2219del
XM_006721923.2:c.2215_2219del	XP_006721986.1:n.2215_2219del
XM_006721924.1:c.2215_2219del	XP_006721987.1:n.2215_2219del
XM_006721925.1:c.2215_2219del	XP_006721988.1:n.2215_2219del
XM_011524852.1:c.2215_2219del	XP_011523154.1:n.2215_2219del
XM_011524853.1:c.2215_2219del	XP_011523155.1:n.2215_2219del
XM_011524854.1:c.2215_2219del	XP_011523156.1:n.2215_2219del
XM_011524855.1:c.2215_2219del	XP_011523157.1:n.2215_2219del
XM_011524856.1:c.2215_2219del	XP_011523158.1:n.2215_2219del
XM_011524857.1:c.2215_2219del	XP_011523159.1:n.2215_2219del