Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.89725662_89725663insGCCA , CM000666.2:g.89725662_89725663insGCCA	GRCh38
NC_000004.11:g.90646813_90646814insGCCA , CM000666.1:g.90646813_90646814insGCCA	GRCh37
NC_000004.10:g.90865836_90865837insGCCA	NCBI36
NG_011851.1:g.117634_117635insTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394991.8:c.965_966insTGGC MANE Select	ENSP00000378442.4:n.965_966insTGGC
ENST00000673718.1:c.965_966insTGGC	ENSP00000500990.1:n.965_966insTGGC
ENST00000673766.1:n.1643_1644insTGGC
ENST00000673902.1:c.390+3531_390+3532insTGGC	ENSP00000501102.1:n.390+3531_390+3532insTGGC
ENST00000674129.1:c.965_966insTGGC	ENSP00000501269.1:n.965_966insTGGC
ENST00000336904.7:c.965_966insTGGC	ENSP00000338345.3:n.965_966insTGGC
ENST00000394989.6:c.965_966insTGGC	ENSP00000378440.2:n.965_966insTGGC
ENST00000420646.6:c.965_966insTGGC	ENSP00000396241.2:n.965_966insTGGC
ENST00000618500.4:c.965_966insTGGC	ENSP00000484044.1:n.965_966insTGGC
NM_000345.3:c.965_966insTGGC	NP_000336.1:n.965_966insTGGC
NM_001146054.1:c.965_966insTGGC	NP_001139526.1:n.965_966insTGGC
NM_001146055.1:c.965_966insTGGC	NP_001139527.1:n.965_966insTGGC
NM_007308.2:c.965_966insTGGC	NP_009292.1:n.965_966insTGGC
XM_011532208.1:c.965_966insTGGC	XP_011530510.1:n.965_966insTGGC
XM_011532208.2:c.965_966insTGGC	XP_011530510.1:n.965_966insTGGC
XM_017008562.1:c.965_966insTGGC	XP_016864051.1:n.965_966insTGGC
XM_017008563.1:c.965_966insTGGC	XP_016864052.1:n.965_966insTGGC
NM_000345.4:c.965_966insTGGC MANE Select	NP_000336.1:n.965_966insTGGC
NM_001146054.2:c.965_966insTGGC	NP_001139526.1:n.965_966insTGGC
NM_001146055.2:c.965_966insTGGC	NP_001139527.1:n.965_966insTGGC
NM_001375285.1:c.965_966insTGGC	NP_001362214.1:n.965_966insTGGC
NM_001375286.1:c.965_966insTGGC	NP_001362215.1:n.965_966insTGGC
NM_001375287.1:c.965_966insTGGC	NP_001362216.1:n.965_966insTGGC
NM_001375288.1:c.965_966insTGGC	NP_001362217.1:n.965_966insTGGC
NM_001375290.1:c.965_966insTGGC	NP_001362219.1:n.965_966insTGGC
NR_164674.1:n.1276+190_1276+191insTGGC
NR_164675.1:n.1423+190_1423+191insTGGC
NR_164676.1:n.1686_1687insTGGC
NM_007308.3:c.965_966insTGGC	NP_009292.1:n.965_966insTGGC

HGVS	Amino-acid Change
ENST00000394991.8:c.965_966insTGGC MANE Select	ENSP00000378442.4:n.965_966insTGGC
ENST00000673718.1:c.965_966insTGGC	ENSP00000500990.1:n.965_966insTGGC
ENST00000673766.1:n.1643_1644insTGGC
ENST00000673902.1:c.390+3531_390+3532insTGGC	ENSP00000501102.1:n.390+3531_390+3532insTGGC
ENST00000674129.1:c.965_966insTGGC	ENSP00000501269.1:n.965_966insTGGC
ENST00000336904.7:c.965_966insTGGC	ENSP00000338345.3:n.965_966insTGGC
ENST00000394989.6:c.965_966insTGGC	ENSP00000378440.2:n.965_966insTGGC
ENST00000420646.6:c.965_966insTGGC	ENSP00000396241.2:n.965_966insTGGC
ENST00000618500.4:c.965_966insTGGC	ENSP00000484044.1:n.965_966insTGGC
NM_000345.3:c.965_966insTGGC	NP_000336.1:n.965_966insTGGC
NM_001146054.1:c.965_966insTGGC	NP_001139526.1:n.965_966insTGGC
NM_001146055.1:c.965_966insTGGC	NP_001139527.1:n.965_966insTGGC
NM_007308.2:c.965_966insTGGC	NP_009292.1:n.965_966insTGGC
XM_011532208.1:c.965_966insTGGC	XP_011530510.1:n.965_966insTGGC
XM_011532208.2:c.965_966insTGGC	XP_011530510.1:n.965_966insTGGC
XM_017008562.1:c.965_966insTGGC	XP_016864051.1:n.965_966insTGGC
XM_017008563.1:c.965_966insTGGC	XP_016864052.1:n.965_966insTGGC
NM_000345.4:c.965_966insTGGC MANE Select	NP_000336.1:n.965_966insTGGC
NM_001146054.2:c.965_966insTGGC	NP_001139526.1:n.965_966insTGGC
NM_001146055.2:c.965_966insTGGC	NP_001139527.1:n.965_966insTGGC
NM_001375285.1:c.965_966insTGGC	NP_001362214.1:n.965_966insTGGC
NM_001375286.1:c.965_966insTGGC	NP_001362215.1:n.965_966insTGGC
NM_001375287.1:c.965_966insTGGC	NP_001362216.1:n.965_966insTGGC
NM_001375288.1:c.965_966insTGGC	NP_001362217.1:n.965_966insTGGC
NM_001375290.1:c.965_966insTGGC	NP_001362219.1:n.965_966insTGGC
NR_164674.1:n.1276+190_1276+191insTGGC
NR_164675.1:n.1423+190_1423+191insTGGC
NR_164676.1:n.1686_1687insTGGC
NM_007308.3:c.965_966insTGGC	NP_009292.1:n.965_966insTGGC