Canonical Allele Identifier: CA1589892179

Gene: SPINK5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107081_148107082delinsTA , CM000667.2:g.148107081_148107082delinsTA	GRCh38
NC_000005.9:g.147486644_147486645delinsTA , CM000667.1:g.147486644_147486645delinsTA	GRCh37
NC_000005.8:g.147466837_147466838delinsTA	NCBI36
NG_009633.1:g.48110_48111delinsTA , LRG_110:g.48110_48111delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1133_1134delinsTA
ENST00000256084.8:c.1524_1525delinsTA MANE Select	ENSP00000256084.7:p.Leu508=
ENST00000256084.7:c.1524_1525delinsTA	ENSP00000256084.7:p.Leu508=
ENST00000359874.7:c.1524_1525delinsTA	ENSP00000352936.3:p.Leu508=
ENST00000398454.5:c.1524_1525delinsTA	ENSP00000381472.1:p.Leu508=
ENST00000507988.5:n.1688_1689delinsTA
ENST00000508733.5:c.1467_1468delinsTA	ENSP00000421519.1:p.Leu489=
NM_001127698.1:c.1524_1525delinsTA	NP_001121170.1:p.Leu508=
NM_001127699.1:c.1524_1525delinsTA	NP_001121171.1:p.Leu508=
NM_006846.3:c.1524_1525delinsTA , LRG_110t1:c.1524_1525delinsTA	NP_006837.2:p.Leu508=
XM_011537550.1:c.1467_1468delinsTA	XP_011535852.1:p.Leu489=
XM_011537551.1:c.1440_1441delinsTA	XP_011535853.1:p.Leu480=
XM_011537551.2:c.1440_1441delinsTA	XP_011535853.1:p.Leu480=
NM_001127698.2:c.1524_1525delinsTA	NP_001121170.1:p.Leu508=
NM_001127699.2:c.1524_1525delinsTA	NP_001121171.1:p.Leu508=
NM_006846.4:c.1524_1525delinsTA MANE Select	NP_006837.2:p.Leu508=