Canonical Allele Identifier: CA2675859800

Gene: SPINK5

Linked Data

• gnomAD v4: 5-148131287-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148131287_148131288insC , CM000667.2:g.148131287_148131288insC	GRCh38
NC_000005.9:g.147510850_147510851insC , CM000667.1:g.147510850_147510851insC	GRCh37
NC_000005.8:g.147491043_147491044insC	NCBI36
NG_009633.1:g.72316_72317insC , LRG_110:g.72316_72317insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256084.8:c.2993_2994insC MANE Select	ENSP00000256084.7:p.Leu999IlefsTer18
ENST00000256084.7:c.2993_2994insC	ENSP00000256084.7:p.Leu999IlefsTer18
ENST00000359874.7:c.3083_3084insC	ENSP00000352936.3:p.Leu1029IlefsTer18
NM_001127698.1:c.3083_3084insC	NP_001121170.1:p.Leu1029IlefsTer18
NM_006846.3:c.2993_2994insC , LRG_110t1:c.2993_2994insC	NP_006837.2:p.Leu999IlefsTer18
XM_011537550.1:c.3026_3027insC	XP_011535852.1:p.Leu1010IlefsTer18
XM_011537551.1:c.2999_3000insC	XP_011535853.1:p.Leu1001IlefsTer18
XM_011537551.2:c.2999_3000insC	XP_011535853.1:p.Leu1001IlefsTer18
NM_001127698.2:c.3083_3084insC	NP_001121170.1:p.Leu1029IlefsTer18
NM_006846.4:c.2993_2994insC MANE Select	NP_006837.2:p.Leu999IlefsTer18