Canonical Allele Identifier: CA128923757

Gene: SPINK5

Linked Data

• dbSNP Id: rs3995244
• gnomAD v2: 5-147486995-AAGAG-A
• gnomAD v3: 5-148107432-AAGAG-A
• gnomAD v4: 5-148107432-AAGAG-A
• MyVariant Identifiers: chr5:g.147486996_147486999del (hg19) ; chr5:g.148107433_148107436del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.148107437_148107440del , CM000667.2:g.148107437_148107440del	GRCh38
NC_000005.9:g.147487000_147487003del , CM000667.1:g.147487000_147487003del	GRCh37
NC_000005.8:g.147467193_147467196del	NCBI36
NG_009633.1:g.48466_48469del , LRG_110:g.48466_48469del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481286.6:n.1216+273_1216+276del
ENST00000256084.8:c.1607+273_1607+276del MANE Select	ENSP00000256084.7:n.1607+273_1607+276del
ENST00000256084.7:c.1607+273_1607+276del	ENSP00000256084.7:n.1607+273_1607+276del
ENST00000359874.7:c.1607+273_1607+276del	ENSP00000352936.3:n.1607+273_1607+276del
ENST00000398454.5:c.1607+273_1607+276del	ENSP00000381472.1:n.1607+273_1607+276del
ENST00000507988.5:n.1771+273_1771+276del
ENST00000508733.5:c.1550+273_1550+276del	ENSP00000421519.1:n.1550+273_1550+276del
NM_001127698.1:c.1607+273_1607+276del	NP_001121170.1:n.1607+273_1607+276del
NM_001127699.1:c.1607+273_1607+276del	NP_001121171.1:n.1607+273_1607+276del
NM_006846.3:c.1607+273_1607+276del , LRG_110t1:c.1607+273_1607+276del	NP_006837.2:n.1607+273_1607+276del
XM_011537550.1:c.1550+273_1550+276del	XP_011535852.1:n.1550+273_1550+276del
XM_011537551.1:c.1523+273_1523+276del	XP_011535853.1:n.1523+273_1523+276del
XM_011537551.2:c.1523+273_1523+276del	XP_011535853.1:n.1523+273_1523+276del
NM_001127698.2:c.1607+273_1607+276del	NP_001121170.1:n.1607+273_1607+276del
NM_001127699.2:c.1607+273_1607+276del	NP_001121171.1:n.1607+273_1607+276del
NM_006846.4:c.1607+273_1607+276del MANE Select	NP_006837.2:n.1607+273_1607+276del