Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.34153409_34153410dup , CM000669.2:g.34153409_34153410dup	GRCh38
NC_000007.13:g.34193021_34193022dup , CM000669.1:g.34193021_34193022dup	GRCh37
NC_000007.12:g.34159546_34159547dup	NCBI36
NG_031933.1:g.253499_253500dup

Transcript Alleles

HGVS	Amino-acid Change
NM_001365308.1:c.136_137dup MANE Select	NP_001352237.1:n.136_137dup
ENST00000649409.2:c.136_137dup MANE Select	ENSP00000497748.1:n.136_137dup
NM_133468.4:c.136_137dup	NP_597725.1:n.136_137dup
NM_133468.5:c.136_137dup	NP_597725.1:n.136_137dup
ENST00000297161.6:c.136_137dup	ENSP00000297161.2:n.136_137dup
ENST00000647656.1:c.1465_1466dup	ENSP00000497346.1:n.1465_1466dup
ENST00000647703.1:n.1589_1590dup
ENST00000648229.1:c.1090_1091dup	ENSP00000498201.1:n.1090_1091dup
ENST00000648305.1:c.1023_1024dup	ENSP00000497365.1:n.1023_1024dup
ENST00000648320.1:n.1496_1497dup
ENST00000648392.1:c.136_137dup	ENSP00000497488.1:n.136_137dup
ENST00000648445.1:c.136_137dup	ENSP00000498008.1:n.136_137dup
ENST00000648618.1:c.1596_1597dup	ENSP00000496953.1:n.1596_1597dup
ENST00000648848.1:c.136_137dup	ENSP00000497963.1:n.136_137dup
ENST00000648856.1:c.305_306dup	ENSP00000496854.1:n.305_306dup
ENST00000648982.1:c.1787_1788dup
ENST00000649002.1:c.1067_1068dup	ENSP00000496926.1:n.1067_1068dup
ENST00000649771.1:c.683_684dup	ENSP00000497314.1:n.683_684dup
ENST00000649985.1:c.1549_1550dup	ENSP00000497578.1:n.1549_1550dup
ENST00000650202.1:c.1596_1597dup	ENSP00000497972.1:n.1596_1597dup
ENST00000650206.1:c.1325_1326dup	ENSP00000497637.1:n.1325_1326dup
ENST00000650350.1:c.1937_1938dup	ENSP00000497933.1:n.1937_1938dup
ENST00000650533.1:c.888_889dup	ENSP00000497081.1:n.888_889dup
ENST00000650544.1:c.136_137dup	ENSP00000497982.1:n.136_137dup
XM_005249633.1:c.136_137dup	XP_005249690.1:n.136_137dup
XM_005249633.3:c.136_137dup	XP_005249690.1:n.136_137dup
XM_017011800.2:c.136_137dup	XP_016867289.1:n.136_137dup
XM_017011801.2:c.136_137dup	XP_016867290.1:n.136_137dup

HGVS	Amino-acid Change
NM_001365308.1:c.136_137dup MANE Select	NP_001352237.1:n.136_137dup
ENST00000649409.2:c.136_137dup MANE Select	ENSP00000497748.1:n.136_137dup
NM_133468.4:c.136_137dup	NP_597725.1:n.136_137dup
NM_133468.5:c.136_137dup	NP_597725.1:n.136_137dup
ENST00000297161.6:c.136_137dup	ENSP00000297161.2:n.136_137dup
ENST00000647656.1:c.1465_1466dup	ENSP00000497346.1:n.1465_1466dup
ENST00000647703.1:n.1589_1590dup
ENST00000648229.1:c.1090_1091dup	ENSP00000498201.1:n.1090_1091dup
ENST00000648305.1:c.1023_1024dup	ENSP00000497365.1:n.1023_1024dup
ENST00000648320.1:n.1496_1497dup
ENST00000648392.1:c.136_137dup	ENSP00000497488.1:n.136_137dup
ENST00000648445.1:c.136_137dup	ENSP00000498008.1:n.136_137dup
ENST00000648618.1:c.1596_1597dup	ENSP00000496953.1:n.1596_1597dup
ENST00000648848.1:c.136_137dup	ENSP00000497963.1:n.136_137dup
ENST00000648856.1:c.305_306dup	ENSP00000496854.1:n.305_306dup
ENST00000648982.1:c.1787_1788dup
ENST00000649002.1:c.1067_1068dup	ENSP00000496926.1:n.1067_1068dup
ENST00000649771.1:c.683_684dup	ENSP00000497314.1:n.683_684dup
ENST00000649985.1:c.1549_1550dup	ENSP00000497578.1:n.1549_1550dup
ENST00000650202.1:c.1596_1597dup	ENSP00000497972.1:n.1596_1597dup
ENST00000650206.1:c.1325_1326dup	ENSP00000497637.1:n.1325_1326dup
ENST00000650350.1:c.1937_1938dup	ENSP00000497933.1:n.1937_1938dup
ENST00000650533.1:c.888_889dup	ENSP00000497081.1:n.888_889dup
ENST00000650544.1:c.136_137dup	ENSP00000497982.1:n.136_137dup
XM_005249633.1:c.136_137dup	XP_005249690.1:n.136_137dup
XM_005249633.3:c.136_137dup	XP_005249690.1:n.136_137dup
XM_017011800.2:c.136_137dup	XP_016867289.1:n.136_137dup
XM_017011801.2:c.136_137dup	XP_016867290.1:n.136_137dup