Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14500815_14500817delinsTTA , CM000674.2:g.14500815_14500817delinsTTA	GRCh38
NC_000012.11:g.14653749_14653751delinsTTA , CM000674.1:g.14653749_14653751delinsTTA	GRCh37
NC_000012.10:g.14545016_14545018delinsTTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261168.9:c.2742_2744delinsTTA MANE Select	ENSP00000261168.4:n.2742_2744delinsTTA
ENST00000261168.8:c.2742_2744delinsTTA	ENSP00000261168.4:n.2742_2744delinsTTA
ENST00000536444.5:c.2742_2744delinsTTA	ENSP00000445955.1:n.2742_2744delinsTTA
NM_001286514.1:c.2742_2744delinsTTA	NP_001273443.1:n.2742_2744delinsTTA
NM_018179.4:c.2742_2744delinsTTA	NP_060649.3:n.2742_2744delinsTTA
NM_181352.1:c.2742_2744delinsTTA	NP_851997.1:n.2742_2744delinsTTA
XM_005253424.4:c.2742_2744delinsTTA	XP_005253481.1:n.2742_2744delinsTTA
XM_006719108.3:c.2742_2744delinsTTA	XP_006719171.1:n.2742_2744delinsTTA
XM_006719109.3:c.2742_2744delinsTTA	XP_006719172.1:n.2742_2744delinsTTA
XM_011520754.3:c.2742_2744delinsTTA	XP_011519056.1:n.2742_2744delinsTTA
XM_011520755.2:c.2742_2744delinsTTA	XP_011519057.1:n.2742_2744delinsTTA
XM_017019638.1:c.2742_2744delinsTTA	XP_016875127.1:n.2742_2744delinsTTA
XM_017019639.1:c.2742_2744delinsTTA	XP_016875128.1:n.2742_2744delinsTTA
XR_001748808.2:n.6661_6663delinsTTA
NM_001286514.2:c.2742_2744delinsTTA	NP_001273443.1:n.2742_2744delinsTTA
NM_181352.2:c.2742_2744delinsTTA	NP_851997.1:n.2742_2744delinsTTA
NM_001388179.1:c.2742_2744delinsTTA	NP_001375108.1:n.2742_2744delinsTTA
NM_001388180.1:c.2742_2744delinsTTA	NP_001375109.1:n.2742_2744delinsTTA
NM_001388181.1:c.2742_2744delinsTTA	NP_001375110.1:n.2742_2744delinsTTA
NM_001388182.1:c.2742_2744delinsTTA	NP_001375111.1:n.2742_2744delinsTTA
NM_001388183.1:c.2742_2744delinsTTA	NP_001375112.1:n.2742_2744delinsTTA
NM_001388184.1:c.2742_2744delinsTTA	NP_001375113.1:n.2742_2744delinsTTA
NM_018179.5:c.2742_2744delinsTTA MANE Select	NP_060649.3:n.2742_2744delinsTTA
NR_170893.1:n.6619_6621delinsTTA

HGVS	Amino-acid Change
ENST00000261168.9:c.2742_2744delinsTTA MANE Select	ENSP00000261168.4:n.2742_2744delinsTTA
ENST00000261168.8:c.2742_2744delinsTTA	ENSP00000261168.4:n.2742_2744delinsTTA
ENST00000536444.5:c.2742_2744delinsTTA	ENSP00000445955.1:n.2742_2744delinsTTA
NM_001286514.1:c.2742_2744delinsTTA	NP_001273443.1:n.2742_2744delinsTTA
NM_018179.4:c.2742_2744delinsTTA	NP_060649.3:n.2742_2744delinsTTA
NM_181352.1:c.2742_2744delinsTTA	NP_851997.1:n.2742_2744delinsTTA
XM_005253424.4:c.2742_2744delinsTTA	XP_005253481.1:n.2742_2744delinsTTA
XM_006719108.3:c.2742_2744delinsTTA	XP_006719171.1:n.2742_2744delinsTTA
XM_006719109.3:c.2742_2744delinsTTA	XP_006719172.1:n.2742_2744delinsTTA
XM_011520754.3:c.2742_2744delinsTTA	XP_011519056.1:n.2742_2744delinsTTA
XM_011520755.2:c.2742_2744delinsTTA	XP_011519057.1:n.2742_2744delinsTTA
XM_017019638.1:c.2742_2744delinsTTA	XP_016875127.1:n.2742_2744delinsTTA
XM_017019639.1:c.2742_2744delinsTTA	XP_016875128.1:n.2742_2744delinsTTA
XR_001748808.2:n.6661_6663delinsTTA
NM_001286514.2:c.2742_2744delinsTTA	NP_001273443.1:n.2742_2744delinsTTA
NM_181352.2:c.2742_2744delinsTTA	NP_851997.1:n.2742_2744delinsTTA
NM_001388179.1:c.2742_2744delinsTTA	NP_001375108.1:n.2742_2744delinsTTA
NM_001388180.1:c.2742_2744delinsTTA	NP_001375109.1:n.2742_2744delinsTTA
NM_001388181.1:c.2742_2744delinsTTA	NP_001375110.1:n.2742_2744delinsTTA
NM_001388182.1:c.2742_2744delinsTTA	NP_001375111.1:n.2742_2744delinsTTA
NM_001388183.1:c.2742_2744delinsTTA	NP_001375112.1:n.2742_2744delinsTTA
NM_001388184.1:c.2742_2744delinsTTA	NP_001375113.1:n.2742_2744delinsTTA
NM_018179.5:c.2742_2744delinsTTA MANE Select	NP_060649.3:n.2742_2744delinsTTA
NR_170893.1:n.6619_6621delinsTTA