Canonical Allele Identifier: CA2659874537

Gene: SFTPB

Linked Data

• gnomAD v4: 2-85663439-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85663440_85663441del , CM000664.2:g.85663440_85663441del	GRCh38
NC_000002.11:g.85890563_85890564del , CM000664.1:g.85890563_85890564del	GRCh37
NC_000002.10:g.85744074_85744075del	NCBI36
NG_016967.1:g.10301_10302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409383.6:c.907_908del	ENSP00000386346.2:p.Met303ValfsTer?
ENST00000519937.7:c.907_908del MANE Select	ENSP00000428719.2:p.Met303ValfsTer?
ENST00000393822.7:c.907_908del	ENSP00000377409.4:p.Met303ValfsTer?
ENST00000409383.5:c.943_944del	ENSP00000386346.1:p.Met315ValfsTer?
ENST00000428225.5:c.884_885del
ENST00000491167.1:n.107_108del
ENST00000494165.1:c.38_39del
ENST00000519937.6:c.907_908del	ENSP00000428719.2:p.Met303ValfsTer?
NM_000542.3:c.943_944del	NP_000533.3:p.Met315ValfsTer?
NM_198843.2:c.943_944del	NP_942140.2:p.Met315ValfsTer?
XM_005264487.2:c.943_944del	XP_005264544.1:p.Met315ValfsTer?
XM_005264488.2:c.895_896del	XP_005264545.2:p.Met299ValfsTer?
XM_005264490.3:c.907_908del	XP_005264547.2:p.Met303ValfsTer?
XM_005264488.4:c.895_896del	XP_005264545.2:p.Met299ValfsTer?
XM_005264490.4:c.907_908del	XP_005264547.2:p.Met303ValfsTer?
NM_000542.4:c.907_908del	NP_000533.4:p.Met303ValfsTer?
NM_001367281.1:c.907_908del	NP_001354210.1:p.Met303ValfsTer?
NM_198843.3:c.907_908del	NP_942140.3:p.Met303ValfsTer?
NM_000542.5:c.907_908del MANE Select	NP_000533.4:p.Met303ValfsTer?