Canonical Allele Identifier: CA1452162354

Gene: LIAS

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39467551_39467552delinsTG , CM000666.2:g.39467551_39467552delinsTG	GRCh38
NC_000004.11:g.39469171_39469172delinsTG , CM000666.1:g.39469171_39469172delinsTG	GRCh37
NC_000004.10:g.39145566_39145567delinsTG	NCBI36
NG_032111.1:g.13507_13508delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000261434.8:c.333_334delinsTG	ENSP00000261434.4:p.Pro111=
ENST00000340169.7:c.642_643delinsTG	ENSP00000340676.2:p.Pro214=
ENST00000381846.2:c.608+2209_608+2210delinsTG	ENSP00000371270.1:n.608+2209_608+2210deli...
ENST00000513731.6:c.252_253delinsTG	ENSP00000425580.1:p.Pro84=
ENST00000638422.1:c.642_643delinsTG	ENSP00000491001.1:p.Pro214=
ENST00000638430.1:c.339_340delinsTG
ENST00000638451.1:c.300-2468_300-2467delinsTG	ENSP00000491681.1:n.300-2468_300-2467deli...
ENST00000638816.1:c.356_357delinsTG	ENSP00000492482.1:n.356_357delinsTG
ENST00000639422.1:c.427_428delinsTG	ENSP00000491899.1:p.Ter143=
ENST00000640349.1:c.528_529delinsTG	ENSP00000491477.1:p.Pro176=
ENST00000640381.1:n.702_703delinsTG
ENST00000640672.1:c.368+2209_368+2210delinsTG	ENSP00000492203.1:n.368+2209_368+2210deli...
ENST00000640689.1:c.*245_*246delinsTG	ENSP00000491591.1:n.*245_*246delinsTG
ENST00000640888.2:c.642_643delinsTG MANE Select	ENSP00000492260.1:p.Pro214=
ENST00000261434.7:c.642_643delinsTG	ENSP00000261434.3:p.Pro214=
ENST00000340169.6:c.642_643delinsTG	ENSP00000340676.2:p.Pro214=
ENST00000381846.1:c.608+2209_608+2210delinsTG	ENSP00000371270.1:n.608+2209_608+2210deli...
ENST00000513731.5:c.252_253delinsTG	ENSP00000425580.1:p.Pro84=
NM_001278590.1:c.608+2209_608+2210delinsTG	NP_001265519.1:n.608+2209_608+2210delinsT...
NM_006859.3:c.642_643delinsTG	NP_006850.2:p.Pro214=
NM_194451.2:c.642_643delinsTG	NP_919433.1:p.Pro214=
XM_006713990.2:c.300-2468_300-2467delinsTG	XP_006714053.1:n.300-2468_300-2467delinsT...
NM_001363700.1:c.333_334delinsTG	NP_001350629.1:p.Pro111=
XM_006713990.3:c.300-2468_300-2467delinsTG	XP_006714053.1:n.300-2468_300-2467delinsT...
XM_017007665.2:c.608+2209_608+2210delinsTG	XP_016863154.1:n.608+2209_608+2210delinsT...
XR_001741096.2:n.730_731delinsTG
NM_001278590.2:c.608+2209_608+2210delinsTG	NP_001265519.1:n.608+2209_608+2210delinsT...
NM_001363700.2:c.333_334delinsTG	NP_001350629.1:p.Pro111=
NM_006859.4:c.642_643delinsTG MANE Select	NP_006850.2:p.Pro214=
NM_194451.3:c.642_643delinsTG	NP_919433.1:p.Pro214=